Canonical Allele Identifier: CA645529546

Gene: VHL

Linked Data

• COSMIC: COSM4770217

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149884_10149892del , CM000665.2:g.10149884_10149892del	GRCh38
NC_000003.11:g.10191568_10191576del , CM000665.1:g.10191568_10191576del	GRCh37
NC_000003.10:g.10166568_10166576del	NCBI36
NG_008212.3:g.13250_13258del , LRG_322:g.13250_13258del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*238_*246del	ENSP00000512434.1:n.*238_*246del
ENST00000696143.1:c.697_705del	ENSP00000512435.1:n.697_705del
ENST00000696153.1:c.672_680del	ENSP00000512444.1:p.Leu225_Asp227del
ENST00000256474.3:c.561_569del MANE Select	ENSP00000256474.3:p.Leu188_Asp190del
ENST00000256474.2:c.561_569del	ENSP00000256474.2:p.Leu188_Asp190del
ENST00000345392.2:c.438_446del	ENSP00000344757.2:p.Leu147_Asp149del
ENST00000477538.1:n.697_705del
NM_000551.3:c.561_569del , LRG_322t1:c.561_569del	NP_000542.1:p.Leu188_Asp190del
NM_198156.2:c.438_446del	NP_937799.1:p.Leu147_Asp149del
NM_001354723.1:c.*115_*123del	NP_001341652.1:n.*115_*123del
NM_000551.4:c.561_569del MANE Select	NP_000542.1:p.Leu188_Asp190del
NM_001354723.2:c.*115_*123del	NP_001341652.1:n.*115_*123del
NM_198156.3:c.438_446del	NP_937799.1:p.Leu147_Asp149del