Canonical Allele Identifier: CA2677951220
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271091-CCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271092_31271093del , CM000668.2:g.31271092_31271093del GRCh38
NC_000006.11:g.31238869_31238870del , CM000668.1:g.31238869_31238870del GRCh37
NC_000006.10:g.31346848_31346849del NCBI36
NG_029422.2:g.6039_6040del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.599_600del MANE Select ENSP00000365402.5:p.Lys200ArgfsTer20
ENST00000376228.9:c.599_600del ENSP00000365402.5:p.Lys200ArgfsTer20
ENST00000376237.8:c.*186_*187del ENSP00000365412.4:n.*186_*187del
ENST00000383329.7:c.599_600del ENSP00000372819.3:p.Lys200ArgfsTer20
ENST00000415537.1:c.597_598del
ENST00000487245.5:n.958_959del
ENST00000495835.1:n.788_789del
NM_002117.5:c.599_600del NP_002108.4:p.Lys200ArgfsTer20
NM_002117.6:c.599_600del MANE Select NP_002108.4:p.Lys200ArgfsTer20
Search 100 bp 5'
Search 100 bp 3'