consensus-sequence

Element Information

Model

Attributes

QName Type Fixed Default Use Inheritable Annotation
date xs:date required

Source

<xs:element name="consensus-sequence" type="hmlns:consensus-sequence" minOccurs="0" maxOccurs="unbounded"/>

Sample

< typing xmlns = "http://schemas.nmdp.org/spec/hml/1.0" gene-family = "HLA" date = "2016-03-15" >

< allele-assignment date = "20164-03-16" allele-db = "IMGT/HLA" allele-version = "3.20.0" >

< glstring>

HLA-DRB1*04:11:01+HLA-DRB1*04:07:01/HLA-DRB1*04:92

</ glstring>

< glstring uri = "http://gl.immunogenomics.org/imgt-hla/3.14.0/genotype-list/e" />

</ allele-assignment>

< typing-method>

< sbt-ngs locus = "HLA-DRB1" test-id = "GTR000000000.0" test-id-source = "NCBI-GTR" />

</ typing-method>

< consensus-sequence date = "2014-11-02" >

< reference-database name = "imgt-hla" description = "IMGT/HLA Database" version = "3.18.0" availability = "public" curated = "true" uri = "http://www.ebi.ac.uk/ipd/imgt/hla" >

< reference-sequence id = "ref1" name = "HLA-A*01:01:01:01" start = "0" end = "3053" accession = "HLA00001" uri = "http://www.ebi.ac.uk/Tools/dbfetch/dbfetch?db=imgthla;id=HLA00001" />

</ reference-database>

< consensus-sequence-block reference-sequence-id = "ref1" start = "29942124" end = "29944020" strand = "1" phase-set = "1" continuity = "true" expected-copy-number = "1" description = "HLA-A exon 1" >

< sequence>

TTTCTTGGAGCAGGTTAAACATGAGTGTCATTTCTTCAACGGGACGGAGCGGGTGCGGTTCCTGGACA GATACTTCTATCACCAAGAGGAGTACGTGCGCTTCGACAGCGACGTGGGGGAGTACCGGGCGGTGACG GAGCTGGGGCGGCCTAGCGCCGAGTACTGGAACAGCCAGAAGGACCTCCTGGAGCAGAGGCGGGCCGA GGTGGACACCTACTGCAGACACAACTACGGGGTTGTGGAGAGCTTCACA

</ sequence>

< variant reference-bases = "T" alternate-bases = "C" start = "29942937" end = "29943001" >

< variant-effect term = "missense_variant" />

</ variant>

< variant reference-bases = "CG" alternate-bases = "C" start = "29942999" end = "29943025" >

< variant-effect term = "frameshift_variant" />

</ variant>

< variant reference-bases = "A" alternate-bases = "AT" start = "29942760" end = "29942852" >

< variant-effect term = "stop_gained" />

</ variant>