Canonical Allele Identifier: CA1345059289

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10147011_10147012delinsTA , CM000665.2:g.10147011_10147012delinsTA	GRCh38
NC_000003.11:g.10188695_10188696delinsTA , CM000665.1:g.10188695_10188696delinsTA	GRCh37
NC_000003.10:g.10163695_10163696delinsTA	NCBI36
NG_008212.3:g.10377_10378delinsTA , LRG_322:g.10377_10378delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+375_*140+376delinsTA	ENSP00000512434.1:n.*140+375_*140+376delinsTA
ENST00000696143.1:c.600-2776_600-2775delinsTA	ENSP00000512435.1:n.600-2776_600-2775delinsTA
ENST00000696153.1:c.463+375_463+376delinsTA	ENSP00000512444.1:n.463+375_463+376delinsTA
ENST00000256474.3:c.463+375_463+376delinsTA MANE Select	ENSP00000256474.3:n.463+375_463+376delinsTA
ENST00000256474.2:c.463+375_463+376delinsTA	ENSP00000256474.2:n.463+375_463+376delinsTA
ENST00000345392.2:c.341-2776_341-2775delinsTA	ENSP00000344757.2:n.341-2776_341-2775delinsTA
ENST00000477538.1:n.599+375_599+376delinsTA
NM_000551.3:c.463+375_463+376delinsTA , LRG_322t1:c.463+375_463+376delinsTA	NP_000542.1:n.463+375_463+376delinsTA
NM_198156.2:c.341-2776_341-2775delinsTA	NP_937799.1:n.341-2776_341-2775delinsTA
NM_001354723.1:c.*18-2776_*18-2775delinsTA	NP_001341652.1:n.*18-2776_*18-2775delinsTA
NM_000551.4:c.463+375_463+376delinsTA MANE Select	NP_000542.1:n.463+375_463+376delinsTA
NM_001354723.2:c.*18-2776_*18-2775delinsTA	NP_001341652.1:n.*18-2776_*18-2775delinsTA
NM_198156.3:c.341-2776_341-2775delinsTA	NP_937799.1:n.341-2776_341-2775delinsTA