Canonical Allele Identifier: CA1087449772

Gene: HLA-C

Linked Data

• dbSNP Id: rs2113901667
• gnomAD v3: 6-31269312-A-ACCTGCCACCCCAC
• gnomAD v4: 6-31269312-A-ACCTGCCACCCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269314_31269315insTGCCACCCCACCC , CM000668.2:g.31269314_31269315insTGCCACCCCACCC	GRCh38
NC_000006.11:g.31237091_31237092insTGCCACCCCACCC , CM000668.1:g.31237091_31237092insTGCCACCCCACCC	GRCh37
NC_000006.10:g.31345070_31345071insTGCCACCCCACCC	NCBI36
NG_029422.2:g.7819_7820insGTGGGGTGGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1096+25_1096+26insGTGGGGTGGCAGG MANE Select	ENSP00000365402.5:n.1096+25_1096+26insGTGGGGTGGCAGG
ENST00000376228.9:c.1096+25_1096+26insGTGGGGTGGCAGG	ENSP00000365402.5:n.1096+25_1096+26insGTGGGGTGGCAGG
ENST00000376237.8:c.*683+25_*683+26insGTGGGGTGGCAGG	ENSP00000365412.4:n.*683+25_*683+26insGTGGGGTGGCAGG
ENST00000383329.7:c.1114+25_1114+26insGTGGGGTGGCAGG	ENSP00000372819.3:n.1114+25_1114+26insGTGGGGTGGCAGG
ENST00000466892.5:n.329+25_329+26insGTGGGGTGGCAGG
ENST00000470363.5:n.854+25_854+26insGTGGGGTGGCAGG
ENST00000487245.5:n.1455+25_1455+26insGTGGGGTGGCAGG
NM_002117.5:c.1096+25_1096+26insGTGGGGTGGCAGG	NP_002108.4:n.1096+25_1096+26insGTGGGGTGGCAGG
NM_002117.6:c.1096+25_1096+26insGTGGGGTGGCAGG MANE Select	NP_002108.4:n.1096+25_1096+26insGTGGGGTGGCAGG