Canonical Allele Identifier: CA566688941
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs1562022470
gnomAD v2: 6-31237858-T-TG
gnomAD v4: 6-31270081-T-TG
MyVariant Identifiers: chr6:g.31237858_31237859insG (hg19) chr6:g.31270081_31270082insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270083dup , CM000668.2:g.31270083dup GRCh38
NC_000006.11:g.31237860dup , CM000668.1:g.31237860dup GRCh37
NC_000006.10:g.31345839dup NCBI36
NG_029422.2:g.7050dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.899dup MANE Select ENSP00000365402.5:p.Ser301IlefsTer?
ENST00000376228.9:c.899dup ENSP00000365402.5:p.Ser301IlefsTer?
ENST00000376237.8:c.*486dup ENSP00000365412.4:n.*486dup
ENST00000383329.7:c.899dup ENSP00000372819.3:p.Ser301IlefsTer?
ENST00000470363.5:n.217dup
ENST00000487245.5:n.1258dup
NM_002117.5:c.899dup NP_002108.4:p.Ser301IlefsTer?
NM_002117.6:c.899dup MANE Select NP_002108.4:p.Ser301IlefsTer?
Search 100 bp 5'
Search 100 bp 3'