Canonical Allele Identifier: CA2677951215
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271084-AGC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271086_31271087del , CM000668.2:g.31271086_31271087del GRCh38
NC_000006.11:g.31238863_31238864del , CM000668.1:g.31238863_31238864del GRCh37
NC_000006.10:g.31346842_31346843del NCBI36
NG_029422.2:g.6046_6047del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.606_607del MANE Select ENSP00000365402.5:p.Leu203AlafsTer17
ENST00000376228.9:c.606_607del ENSP00000365402.5:p.Leu203AlafsTer17
ENST00000376237.8:c.*193_*194del ENSP00000365412.4:n.*193_*194del
ENST00000383329.7:c.606_607del ENSP00000372819.3:p.Leu203AlafsTer17
ENST00000415537.1:c.604_605del
ENST00000487245.5:n.965_966del
ENST00000495835.1:n.795_796del
NM_002117.5:c.606_607del NP_002108.4:p.Leu203AlafsTer17
NM_002117.6:c.606_607del MANE Select NP_002108.4:p.Leu203AlafsTer17
Search 100 bp 5'
Search 100 bp 3'