Canonical Allele Identifier: CA3710379

Gene: HLA-C

Linked Data

• dbSNP Id: rs770667135
• ExAC: 6:31237821 C / CCAGGACAGCTGGGCCAG
• gnomAD v2: 6-31237821-C-CCAGGACAGCTGGGCCAG
• gnomAD v3: 6-31270044-C-CCAGGACAGCTGGGCCAG
• gnomAD v4: 6-31270044-C-CCAGGACAGCTGGGCCAG
• MyVariant Identifiers: chr6:g.31237821_31237822insCAGGACAGCTGGGCCAG (hg19) ; chr6:g.31270044_31270045insCAGGACAGCTGGGCCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270044_31270045insCAGGACAGCTGGGCCAG , CM000668.2:g.31270044_31270045insCAGGACAGCTGGGCCAG	GRCh38
NC_000006.11:g.31237821_31237822insCAGGACAGCTGGGCCAG , CM000668.1:g.31237821_31237822insCAGGACAGCTGGGCCAG	GRCh37
NC_000006.10:g.31345800_31345801insCAGGACAGCTGGGCCAG	NCBI36
NG_029422.2:g.7087_7088insCTGGCCCAGCTGTCCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.936_937insCTGGCCCAGCTGTCCTG MANE Select	ENSP00000365402.5:p.Ala313LeufsTer15
ENST00000376228.9:c.936_937insCTGGCCCAGCTGTCCTG	ENSP00000365402.5:p.Ala313LeufsTer15
ENST00000376237.8:c.*523_*524insCTGGCCCAGCTGTCCTG	ENSP00000365412.4:n.*523_*524insCTGGCCCAGCTGTCCTG
ENST00000383329.7:c.936_937insCTGGCCCAGCTGTCCTG	ENSP00000372819.3:p.Ala313LeufsTer15
ENST00000470363.5:n.254_255insCTGGCCCAGCTGTCCTG
ENST00000487245.5:n.1295_1296insCTGGCCCAGCTGTCCTG
NM_002117.5:c.936_937insCTGGCCCAGCTGTCCTG	NP_002108.4:p.Ala313LeufsTer15
NM_002117.6:c.936_937insCTGGCCCAGCTGTCCTG MANE Select	NP_002108.4:p.Ala313LeufsTer15