Canonical Allele Identifier: CA2677951227

Gene: HLA-C

Linked Data

• gnomAD v4: 6-31271105-AGGTATCTGCGGAGCCACTCCACGCACGTGCCCTCCAGGTAGGCTCTCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31271106_31271154del , CM000668.2:g.31271106_31271154del	GRCh38
NC_000006.11:g.31238883_31238931del , CM000668.1:g.31238883_31238931del	GRCh37
NC_000006.10:g.31346862_31346910del	NCBI36
NG_029422.2:g.5978_6026del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376228.10:c.538_586del MANE Select	ENSP00000365402.5:p.Leu180TrpfsTer18
ENST00000376228.9:c.538_586del	ENSP00000365402.5:p.Leu180TrpfsTer18
ENST00000376237.8:c.*125_*173del	ENSP00000365412.4:n.*125_*173del
ENST00000383329.7:c.538_586del	ENSP00000372819.3:p.Leu180TrpfsTer18
ENST00000415537.1:c.536_584del
ENST00000484378.1:n.807_855del
ENST00000487245.5:n.897_945del
ENST00000495835.1:n.727_775del
NM_002117.5:c.538_586del	NP_002108.4:p.Leu180TrpfsTer18
NM_002117.6:c.538_586del MANE Select	NP_002108.4:p.Leu180TrpfsTer18