Canonical Allele Identifier: CA658795182
Gene: VHL HGNC NCBI

Linked Data

CIViC: CA658795182
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149894del , CM000665.2:g.10149894del GRCh38
NC_000003.11:g.10191578del , CM000665.1:g.10191578del GRCh37
NC_000003.10:g.10166578del NCBI36
NG_008212.3:g.13260del , LRG_322:g.13260del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*248del ENSP00000512434.1:n.*248del
ENST00000696143.1:c.707del ENSP00000512435.1:n.707del
ENST00000696153.1:c.682del ENSP00000512444.1:p.His228ThrfsTer11
ENST00000256474.3:c.571del MANE Select ENSP00000256474.3:p.His191ThrfsTer11
ENST00000256474.2:c.571del ENSP00000256474.2:p.His191ThrfsTer11
ENST00000345392.2:c.448del ENSP00000344757.2:p.His150ThrfsTer11
ENST00000477538.1:n.707del
NM_000551.3:c.571del , LRG_322t1:c.571del NP_000542.1:p.His191ThrfsTer11
NM_198156.2:c.448del NP_937799.1:p.His150ThrfsTer11
NM_001354723.1:c.*125del NP_001341652.1:n.*125del
NM_000551.4:c.571del MANE Select NP_000542.1:p.His191ThrfsTer11
NM_001354723.2:c.*125del NP_001341652.1:n.*125del
NM_198156.3:c.448del NP_937799.1:p.His150ThrfsTer11
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