Canonical Allele Identifier: CA1087423207

Gene: HLA-C

Linked Data

• gnomAD v3: 6-31270357-G-GA
• gnomAD v4: 6-31270357-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270357_31270358insA , CM000668.2:g.31270357_31270358insA	GRCh38
NC_000006.11:g.31238134_31238135insA , CM000668.1:g.31238134_31238135insA	GRCh37
NC_000006.10:g.31346113_31346114insA	NCBI36
NG_029422.2:g.6774_6775insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.747_748insT MANE Select	ENSP00000365402.5:p.Gln250SerfsTer?
ENST00000376228.9:c.747_748insT	ENSP00000365402.5:p.Gln250SerfsTer?
ENST00000376237.8:c.*334_*335insT	ENSP00000365412.4:n.*334_*335insT
ENST00000383329.7:c.747_748insT	ENSP00000372819.3:p.Gln250SerfsTer?
ENST00000415537.1:c.665-27_665-26insT
ENST00000470363.5:n.65_66insT
ENST00000487245.5:n.1106_1107insT
ENST00000495835.1:n.936_937insT
NM_002117.5:c.747_748insT	NP_002108.4:p.Gln250SerfsTer?
NM_002117.6:c.747_748insT MANE Select	NP_002108.4:p.Gln250SerfsTer?