Canonical Allele Identifier: CA645525068

Gene: VHL

Linked Data

• COSMIC: COSM18341

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149818_10149820dup , CM000665.2:g.10149818_10149820dup	GRCh38
NC_000003.11:g.10191502_10191504dup , CM000665.1:g.10191502_10191504dup	GRCh37
NC_000003.10:g.10166502_10166504dup	NCBI36
NG_008212.3:g.13184_13186dup , LRG_322:g.13184_13186dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*172_*174dup	ENSP00000512434.1:n.*172_*174dup
ENST00000696143.1:c.631_633dup	ENSP00000512435.1:n.631_633dup
ENST00000696153.1:c.606_608dup	ENSP00000512444.1:p.Val203_Arg204insVal
ENST00000256474.3:c.495_497dup MANE Select	ENSP00000256474.3:p.Val166_Arg167insVal
ENST00000256474.2:c.495_497dup	ENSP00000256474.2:p.Val166_Arg167insVal
ENST00000345392.2:c.372_374dup	ENSP00000344757.2:p.Val125_Arg126insVal
ENST00000477538.1:n.631_633dup
NM_000551.3:c.495_497dup , LRG_322t1:c.495_497dup	NP_000542.1:p.Val166_Arg167insVal
NM_198156.2:c.372_374dup	NP_937799.1:p.Val125_Arg126insVal
NM_001354723.1:c.*49_*51dup	NP_001341652.1:n.*49_*51dup
NM_000551.4:c.495_497dup MANE Select	NP_000542.1:p.Val166_Arg167insVal
NM_001354723.2:c.*49_*51dup	NP_001341652.1:n.*49_*51dup
NM_198156.3:c.372_374dup	NP_937799.1:p.Val125_Arg126insVal