Canonical Allele Identifier: CA2677950679

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31270361-C-CCATT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31270361_31270362insCATT , CM000668.2:g.31270361_31270362insCATT	GRCh38
NC_000006.11:g.31238138_31238139insCATT , CM000668.1:g.31238138_31238139insCATT	GRCh37
NC_000006.10:g.31346117_31346118insCATT	NCBI36
NG_029422.2:g.6770_6771insAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376228.10:c.743_744insAATG MANE Select	ENSP00000365402.5:p.Thr249MetfsTer?
ENST00000376228.9:c.743_744insAATG	ENSP00000365402.5:p.Thr249MetfsTer?
ENST00000376237.8:c.*330_*331insAATG	ENSP00000365412.4:n.*330_*331insAATG
ENST00000383329.7:c.743_744insAATG	ENSP00000372819.3:p.Thr249MetfsTer?
ENST00000415537.1:c.665-31_665-30insAATG
ENST00000470363.5:n.61_62insAATG
ENST00000487245.5:n.1102_1103insAATG
ENST00000495835.1:n.932_933insAATG
NM_002117.5:c.743_744insAATG	NP_002108.4:p.Thr249MetfsTer?
NM_002117.6:c.743_744insAATG MANE Select	NP_002108.4:p.Thr249MetfsTer?