Canonical Allele Identifier: CA2677951230
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271109-ATC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271111_31271112del , CM000668.2:g.31271111_31271112del GRCh38
NC_000006.11:g.31238888_31238889del , CM000668.1:g.31238888_31238889del GRCh37
NC_000006.10:g.31346867_31346868del NCBI36
NG_029422.2:g.6021_6022del

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.581_582del MANE Select ENSP00000365402.5:p.Arg194IlefsTer26
ENST00000376228.9:c.581_582del ENSP00000365402.5:p.Arg194IlefsTer26
ENST00000376237.8:c.*168_*169del ENSP00000365412.4:n.*168_*169del
ENST00000383329.7:c.581_582del ENSP00000372819.3:p.Arg194IlefsTer26
ENST00000415537.1:c.579_580del
ENST00000484378.1:n.850_851del
ENST00000487245.5:n.940_941del
ENST00000495835.1:n.770_771del
NM_002117.5:c.581_582del NP_002108.4:p.Arg194IlefsTer26
NM_002117.6:c.581_582del MANE Select NP_002108.4:p.Arg194IlefsTer26
Search 100 bp 5'
Search 100 bp 3'