Canonical Allele Identifier: CA2844096512
Gene: HLA-C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271082_31271083dup , CM000668.2:g.31271082_31271083dup GRCh38
NC_000006.11:g.31238859_31238860dup , CM000668.1:g.31238859_31238860dup GRCh37
NC_000006.10:g.31346838_31346839dup NCBI36
NG_029422.2:g.6049_6050dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.609_610dup MANE Select ENSP00000365402.5:p.Gln204ArgfsTer11
ENST00000376228.9:c.609_610dup ENSP00000365402.5:p.Gln204ArgfsTer11
ENST00000376237.8:c.*196_*197dup ENSP00000365412.4:n.*196_*197dup
ENST00000383329.7:c.609_610dup ENSP00000372819.3:p.Gln204ArgfsTer11
ENST00000415537.1:c.607_608dup
ENST00000487245.5:n.968_969dup
ENST00000495835.1:n.798_799dup
NM_002117.5:c.609_610dup NP_002108.4:p.Gln204ArgfsTer11
NM_002117.6:c.609_610dup MANE Select NP_002108.4:p.Gln204ArgfsTer11