Canonical Allele Identifier: CA1087428383
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271641-TCA-T
gnomAD v4: 6-31271641-TCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271643_31271644del , CM000668.2:g.31271643_31271644del GRCh38
NC_000006.11:g.31239420_31239421del , CM000668.1:g.31239420_31239421del GRCh37
NC_000006.10:g.31347399_31347400del NCBI36
NG_029422.2:g.5489_5490del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.299_300del MANE Select ENSP00000365402.5:p.Val100GlufsTer?
ENST00000376228.9:c.299_300del ENSP00000365402.5:p.Val100GlufsTer?
ENST00000376237.8:c.299_300del ENSP00000365412.4:p.Val100GlufsTer?
ENST00000383329.7:c.299_300del ENSP00000372819.3:p.Val100GlufsTer?
ENST00000415537.1:c.297_298del
ENST00000484378.1:n.318_319del
ENST00000487245.5:n.408_409del
ENST00000495835.1:n.488_489del
NM_002117.5:c.299_300del NP_002108.4:p.Val100GlufsTer?
NM_002117.6:c.299_300del MANE Select NP_002108.4:p.Val100GlufsTer?
Search 100 bp 5'
Search 100 bp 3'