Canonical Allele Identifier: CA1087449947

Gene: HLA-C

Linked Data

• dbSNP Id: rs2113901812
• gnomAD v3: 6-31269346-G-GC
• gnomAD v4: 6-31269346-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31269346_31269347insC , CM000668.2:g.31269346_31269347insC	GRCh38
NC_000006.11:g.31237123_31237124insC , CM000668.1:g.31237123_31237124insC	GRCh37
NC_000006.10:g.31345102_31345103insC	NCBI36
NG_029422.2:g.7785_7786insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.1087_1088insG MANE Select	ENSP00000365402.5:p.Thr363SerfsTer3
ENST00000376228.9:c.1087_1088insG	ENSP00000365402.5:p.Thr363SerfsTer3
ENST00000376237.8:c.*674_*675insG	ENSP00000365412.4:n.*674_*675insG
ENST00000383329.7:c.1105_1106insG	ENSP00000372819.3:p.Thr369SerfsTer3
ENST00000466892.5:n.320_321insG
ENST00000470363.5:n.845_846insG
ENST00000487245.5:n.1446_1447insG
NM_002117.5:c.1087_1088insG	NP_002108.4:p.Thr363SerfsTer3
NM_002117.6:c.1087_1088insG MANE Select	NP_002108.4:p.Thr363SerfsTer3