Canonical Allele Identifier: CA645524887

Gene: VHL

Linked Data

• COSMIC: COSM253362

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146526_10146541delinsC , CM000665.2:g.10146526_10146541delinsC	GRCh38
NC_000003.11:g.10188210_10188225delinsC , CM000665.1:g.10188210_10188225delinsC	GRCh37
NC_000003.10:g.10163210_10163225delinsC	NCBI36
NG_008212.3:g.9892_9907delinsC , LRG_322:g.9892_9907delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*30_*45delinsC	ENSP00000512434.1:n.*30_*45delinsC
ENST00000696143.1:c.600-3261_600-3246delinsC	ENSP00000512435.1:n.600-3261_600-3246deli...
ENST00000696153.1:c.353_368delinsC	ENSP00000512444.1:p.Leu118_Gly123delinsPr...
ENST00000256474.3:c.353_368delinsC MANE Select	ENSP00000256474.3:p.Leu118_Gly123delinsPr...
ENST00000256474.2:c.353_368delinsC	ENSP00000256474.2:p.Leu118_Gly123delinsPr...
ENST00000345392.2:c.341-3261_341-3246delinsC	ENSP00000344757.2:n.341-3261_341-3246deli...
ENST00000477538.1:n.489_504delinsC
NM_000551.3:c.353_368delinsC , LRG_322t1:c.353_368delinsC	NP_000542.1:p.Leu118_Gly123delinsPro
NM_198156.2:c.341-3261_341-3246delinsC	NP_937799.1:n.341-3261_341-3246delinsC
XM_011534078.1:c.*30_*45delinsC	XP_011532380.1:n.*30_*45delinsC
NM_001354723.1:c.*18-3261_*18-3246delinsC	NP_001341652.1:n.*18-3261_*18-3246delinsC...
NM_000551.4:c.353_368delinsC MANE Select	NP_000542.1:p.Leu118_Gly123delinsPro
NM_001354723.2:c.*18-3261_*18-3246delinsC	NP_001341652.1:n.*18-3261_*18-3246delinsC...
NM_198156.3:c.341-3261_341-3246delinsC	NP_937799.1:n.341-3261_341-3246delinsC