Canonical Allele Identifier: CA1087427057

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31271339-G-GTGTGAGGATGA
• gnomAD v4: 6-31271339-G-GTGTGAGGATGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271345_31271346insGATGATGTGAG , CM000668.2:g.31271345_31271346insGATGATGTGAG	GRCh38
NC_000006.11:g.31239122_31239123insGATGATGTGAG , CM000668.1:g.31239122_31239123insGATGATGTGAG	GRCh37
NC_000006.10:g.31347101_31347102insGATGATGTGAG	NCBI36
NG_029422.2:g.5792_5793insTCATCCTCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.352_353insTCATCCTCACA MANE Select	ENSP00000365402.5:p.Thr118IlefsTer?
ENST00000376228.9:c.352_353insTCATCCTCACA	ENSP00000365402.5:p.Thr118IlefsTer?
ENST00000376237.8:c.344-9_344-8insTCATCCTCACA	ENSP00000365412.4:n.344-9_344-8insTCATCCTCACA
ENST00000383329.7:c.352_353insTCATCCTCACA	ENSP00000372819.3:p.Thr118IlefsTer?
ENST00000415537.1:c.350_351insTCATCCTCACA
ENST00000484378.1:n.621_622insTCATCCTCACA
ENST00000487245.5:n.711_712insTCATCCTCACA
ENST00000495835.1:n.541_542insTCATCCTCACA
NM_002117.5:c.352_353insTCATCCTCACA	NP_002108.4:p.Thr118IlefsTer?
NM_002117.6:c.352_353insTCATCCTCACA MANE Select	NP_002108.4:p.Thr118IlefsTer?