Canonical Allele Identifier: CA2677951231
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271112-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271113del , CM000668.2:g.31271113del GRCh38
NC_000006.11:g.31238890del , CM000668.1:g.31238890del GRCh37
NC_000006.10:g.31346869del NCBI36
NG_029422.2:g.6019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.579del MANE Select ENSP00000365402.5:p.Arg194AspfsTer20
ENST00000376228.9:c.579del ENSP00000365402.5:p.Arg194AspfsTer20
ENST00000376237.8:c.*166del ENSP00000365412.4:n.*166del
ENST00000383329.7:c.579del ENSP00000372819.3:p.Arg194AspfsTer20
ENST00000415537.1:c.577del
ENST00000484378.1:n.848del
ENST00000487245.5:n.938del
ENST00000495835.1:n.768del
NM_002117.5:c.579del NP_002108.4:p.Arg194AspfsTer20
NM_002117.6:c.579del MANE Select NP_002108.4:p.Arg194AspfsTer20
Search 100 bp 5'
Search 100 bp 3'