Canonical Allele Identifier: CA2677951293
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271179-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271181del , CM000668.2:g.31271181del GRCh38
NC_000006.11:g.31238958del , CM000668.1:g.31238958del GRCh37
NC_000006.10:g.31346937del NCBI36
NG_029422.2:g.5952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.512del MANE Select ENSP00000365402.5:p.Leu171TrpfsTer10
ENST00000376228.9:c.512del ENSP00000365402.5:p.Leu171TrpfsTer10
ENST00000376237.8:c.*99del ENSP00000365412.4:n.*99del
ENST00000383329.7:c.512del ENSP00000372819.3:p.Leu171TrpfsTer10
ENST00000415537.1:c.510del
ENST00000484378.1:n.781del
ENST00000487245.5:n.871del
ENST00000495835.1:n.701del
NM_002117.5:c.512del NP_002108.4:p.Leu171TrpfsTer10
NM_002117.6:c.512del MANE Select NP_002108.4:p.Leu171TrpfsTer10
Search 100 bp 5'
Search 100 bp 3'