Canonical Allele Identifier: CA3710795

Gene: HLA-C

Linked Data

• dbSNP Id: rs745508968
• ExAC: 6:31239113 AGGGTG / A
• gnomAD v2: 6-31239113-AGGGTG-A
• gnomAD v4: 6-31271336-AGGGTG-A
• MyVariant Identifiers: chr6:g.31239114_31239118del (hg19) ; chr6:g.31271337_31271341del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271337_31271341del , CM000668.2:g.31271337_31271341del	GRCh38
NC_000006.11:g.31239114_31239118del , CM000668.1:g.31239114_31239118del	GRCh37
NC_000006.10:g.31347093_31347097del	NCBI36
NG_029422.2:g.5791_5795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.351_355del MANE Select	ENSP00000365402.5:p.Thr118ProfsTer19
ENST00000376228.9:c.351_355del	ENSP00000365402.5:p.Thr118ProfsTer19
ENST00000376237.8:c.344-10_344-6del	ENSP00000365412.4:n.344-10_344-6del
ENST00000383329.7:c.351_355del	ENSP00000372819.3:p.Thr118ProfsTer19
ENST00000415537.1:c.349_353del
ENST00000484378.1:n.620_624del
ENST00000487245.5:n.710_714del
ENST00000495835.1:n.540_544del
NM_002117.5:c.351_355del	NP_002108.4:p.Thr118ProfsTer19
NM_002117.6:c.351_355del MANE Select	NP_002108.4:p.Thr118ProfsTer19