Canonical Allele Identifier: CA645524670

Gene: VHL

Linked Data

• COSMIC: COSM18140

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142030_10142042del , CM000665.2:g.10142030_10142042del	GRCh38
NC_000003.11:g.10183714_10183726del , CM000665.1:g.10183714_10183726del	GRCh37
NC_000003.10:g.10158714_10158726del	NCBI36
NG_008212.3:g.5396_5408del , LRG_322:g.5396_5408del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.183_195del	ENSP00000512434.1:p.Val62Ter
ENST00000696143.1:c.183_195del	ENSP00000512435.1:p.Val62Ter
ENST00000696153.1:c.183_195del	ENSP00000512444.1:p.Val62Ter
ENST00000256474.3:c.183_195del MANE Select	ENSP00000256474.3:p.Val62Ter
ENST00000256474.2:c.183_195del	ENSP00000256474.2:p.Val62Ter
ENST00000345392.2:c.183_195del	ENSP00000344757.2:p.Val62Ter
NM_000551.3:c.183_195del , LRG_322t1:c.183_195del	NP_000542.1:p.Val62Ter
NM_198156.2:c.183_195del	NP_937799.1:p.Val62Ter
XM_011534078.1:c.183_195del	XP_011532380.1:p.Val62Ter
NM_001354723.1:c.183_195del	NP_001341652.1:p.Val62Ter
NM_000551.4:c.183_195del MANE Select	NP_000542.1:p.Val62Ter
NM_001354723.2:c.183_195del	NP_001341652.1:p.Val62Ter
NM_198156.3:c.183_195del	NP_937799.1:p.Val62Ter