Canonical Allele Identifier: CA645524994

Gene: VHL

Linked Data

• COSMIC: COSM17973

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146613_10146619del , CM000665.2:g.10146613_10146619del	GRCh38
NC_000003.11:g.10188297_10188303del , CM000665.1:g.10188297_10188303del	GRCh37
NC_000003.10:g.10163297_10163303del	NCBI36
NG_008212.3:g.9979_9985del , LRG_322:g.9979_9985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*117_*123del	ENSP00000512434.1:n.*117_*123del
ENST00000696143.1:c.600-3174_600-3168del	ENSP00000512435.1:n.600-3174_600-3168del
ENST00000696153.1:c.440_446del	ENSP00000512444.1:p.Ile147ThrfsTer20
ENST00000256474.3:c.440_446del MANE Select	ENSP00000256474.3:p.Ile147ThrfsTer10
ENST00000256474.2:c.440_446del	ENSP00000256474.2:p.Ile147ThrfsTer10
ENST00000345392.2:c.341-3174_341-3168del	ENSP00000344757.2:n.341-3174_341-3168del
ENST00000477538.1:n.576_582del
NM_000551.3:c.440_446del , LRG_322t1:c.440_446del	NP_000542.1:p.Ile147ThrfsTer10
NM_198156.2:c.341-3174_341-3168del	NP_937799.1:n.341-3174_341-3168del
NM_001354723.1:c.*18-3174_*18-3168del	NP_001341652.1:n.*18-3174_*18-3168del
NM_000551.4:c.440_446del MANE Select	NP_000542.1:p.Ile147ThrfsTer10
NM_001354723.2:c.*18-3174_*18-3168del	NP_001341652.1:n.*18-3174_*18-3168del
NM_198156.3:c.341-3174_341-3168del	NP_937799.1:n.341-3174_341-3168del