Canonical Allele Identifier: CA645525010

Gene: VHL

Linked Data

• COSMIC: COSM1169464

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146627_10146633del , CM000665.2:g.10146627_10146633del	GRCh38
NC_000003.11:g.10188311_10188317del , CM000665.1:g.10188311_10188317del	GRCh37
NC_000003.10:g.10163311_10163317del	NCBI36
NG_008212.3:g.9993_9999del , LRG_322:g.9993_9999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*131_*137del	ENSP00000512434.1:n.*131_*137del
ENST00000696143.1:c.600-3160_600-3154del	ENSP00000512435.1:n.600-3160_600-3154del
ENST00000696153.1:c.454_460del	ENSP00000512444.1:p.Thr152GlnfsTer15
ENST00000256474.3:c.454_460del MANE Select	ENSP00000256474.3:p.Thr152GlnfsTer5
ENST00000256474.2:c.454_460del	ENSP00000256474.2:p.Thr152GlnfsTer5
ENST00000345392.2:c.341-3160_341-3154del	ENSP00000344757.2:n.341-3160_341-3154del
ENST00000477538.1:n.590_596del
NM_000551.3:c.454_460del , LRG_322t1:c.454_460del	NP_000542.1:p.Thr152GlnfsTer5
NM_198156.2:c.341-3160_341-3154del	NP_937799.1:n.341-3160_341-3154del
NM_001354723.1:c.*18-3160_*18-3154del	NP_001341652.1:n.*18-3160_*18-3154del
NM_000551.4:c.454_460del MANE Select	NP_000542.1:p.Thr152GlnfsTer5
NM_001354723.2:c.*18-3160_*18-3154del	NP_001341652.1:n.*18-3160_*18-3154del
NM_198156.3:c.341-3160_341-3154del	NP_937799.1:n.341-3160_341-3154del