Canonical Allele Identifier: CA1087426416

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31271130-ACG-A
• gnomAD v4: 6-31271130-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271131_31271132del , CM000668.2:g.31271131_31271132del	GRCh38
NC_000006.11:g.31238908_31238909del , CM000668.1:g.31238908_31238909del	GRCh37
NC_000006.10:g.31346887_31346888del	NCBI36
NG_029422.2:g.6000_6001del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.560_561del MANE Select	ENSP00000365402.5:p.Thr187MetfsTer?
ENST00000376228.9:c.560_561del	ENSP00000365402.5:p.Thr187MetfsTer?
ENST00000376237.8:c.*147_*148del	ENSP00000365412.4:n.*147_*148del
ENST00000383329.7:c.560_561del	ENSP00000372819.3:p.Thr187MetfsTer?
ENST00000415537.1:c.558_559del
ENST00000484378.1:n.829_830del
ENST00000487245.5:n.919_920del
ENST00000495835.1:n.749_750del
NM_002117.5:c.560_561del	NP_002108.4:p.Thr187MetfsTer?
NM_002117.6:c.560_561del MANE Select	NP_002108.4:p.Thr187MetfsTer?