Canonical Allele Identifier: CA645529585

Gene: VHL

Linked Data

• COSMIC: COSM6023874

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149932_10149939del , CM000665.2:g.10149932_10149939del	GRCh38
NC_000003.11:g.10191616_10191623del , CM000665.1:g.10191616_10191623del	GRCh37
NC_000003.10:g.10166616_10166623del	NCBI36
NG_008212.3:g.13298_13305del , LRG_322:g.13298_13305del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*286_*293del	ENSP00000512434.1:n.*286_*293del
ENST00000696143.1:c.745_752del	ENSP00000512435.1:n.745_752del
ENST00000696153.1:c.720_727del	ENSP00000512444.1:p.Gln240HisfsTer?
ENST00000256474.3:c.609_616del MANE Select	ENSP00000256474.3:p.Gln203HisfsTer?
ENST00000256474.2:c.609_616del	ENSP00000256474.2:p.Gln203HisfsTer?
ENST00000345392.2:c.486_493del	ENSP00000344757.2:p.Gln162HisfsTer?
ENST00000477538.1:n.745_752del
NM_000551.3:c.609_616del , LRG_322t1:c.609_616del	NP_000542.1:p.Gln203HisfsTer?
NM_198156.2:c.486_493del	NP_937799.1:p.Gln162HisfsTer?
NM_001354723.1:c.*163_*170del	NP_001341652.1:n.*163_*170del
NM_000551.4:c.609_616del MANE Select	NP_000542.1:p.Gln203HisfsTer?
NM_001354723.2:c.*163_*170del	NP_001341652.1:n.*163_*170del
NM_198156.3:c.486_493del	NP_937799.1:p.Gln162HisfsTer?