Canonical Allele Identifier: CA658683298
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 496066
ClinVar RCV Id: RCV000589692
dbSNP Id: rs1553620305

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149797_10149799delinsC , CM000665.2:g.10149797_10149799delinsC GRCh38
NC_000003.11:g.10191481_10191483delinsC , CM000665.1:g.10191481_10191483delinsC GRCh37
NC_000003.10:g.10166481_10166483delinsC NCBI36
NG_008212.3:g.13163_13165delinsC , LRG_322:g.13163_13165delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*151_*153delinsC ENSP00000512434.1:n.*151_*153delinsC
ENST00000696143.1:c.610_612delinsC ENSP00000512435.1:n.610_612delinsC
ENST00000696153.1:c.585_587delinsC ENSP00000512444.1:p.Lys196ArgfsTer14
ENST00000256474.3:c.474_476delinsC MANE Select ENSP00000256474.3:p.Lys159ArgfsTer14
ENST00000256474.2:c.474_476delinsC ENSP00000256474.2:p.Lys159ArgfsTer14
ENST00000345392.2:c.351_353delinsC ENSP00000344757.2:p.Lys118ArgfsTer14
ENST00000477538.1:n.610_612delinsC
NM_000551.3:c.474_476delinsC , LRG_322t1:c.474_476delinsC NP_000542.1:p.Lys159ArgfsTer14
NM_198156.2:c.351_353delinsC NP_937799.1:p.Lys118ArgfsTer14
NM_001354723.1:c.*28_*30delinsC NP_001341652.1:n.*28_*30delinsC
NM_000551.4:c.474_476delinsC MANE Select NP_000542.1:p.Lys159ArgfsTer14
NM_001354723.2:c.*28_*30delinsC NP_001341652.1:n.*28_*30delinsC
NM_198156.3:c.351_353delinsC NP_937799.1:p.Lys118ArgfsTer14