Canonical Allele Identifier: CA2677951248
Gene: HLA-C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271133_31271134del , CM000668.2:g.31271133_31271134del GRCh38
NC_000006.11:g.31238910_31238911del , CM000668.1:g.31238910_31238911del GRCh37
NC_000006.10:g.31346889_31346890del NCBI36
NG_029422.2:g.5999_6000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.559_560del MANE Select ENSP00000365402.5:p.Thr187ValfsTer?
ENST00000376228.9:c.559_560del ENSP00000365402.5:p.Thr187ValfsTer?
ENST00000376237.8:c.*146_*147del ENSP00000365412.4:n.*146_*147del
ENST00000383329.7:c.559_560del ENSP00000372819.3:p.Thr187ValfsTer?
ENST00000415537.1:c.557_558del
ENST00000484378.1:n.828_829del
ENST00000487245.5:n.918_919del
ENST00000495835.1:n.748_749del
NM_002117.5:c.559_560del NP_002108.4:p.Thr187ValfsTer?
NM_002117.6:c.559_560del MANE Select NP_002108.4:p.Thr187ValfsTer?