Canonical Allele Identifier: CA432423541

Gene: VHL

Linked Data

• COSMIC: COSM14421
• MyVariant Identifiers: chr3:g.10191547del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149863del , CM000665.2:g.10149863del	GRCh38
NC_000003.11:g.10191547del , CM000665.1:g.10191547del	GRCh37
NC_000003.10:g.10166547del	NCBI36
NG_008212.3:g.13229del , LRG_322:g.13229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*217del	ENSP00000512434.1:n.*217del
ENST00000696143.1:c.676del	ENSP00000512435.1:n.676del
ENST00000696153.1:c.651del	ENSP00000512444.1:p.Ile217MetfsTer22
ENST00000256474.3:c.540del MANE Select	ENSP00000256474.3:p.Ile180MetfsTer22
ENST00000256474.2:c.540del	ENSP00000256474.2:p.Ile180MetfsTer22
ENST00000345392.2:c.417del	ENSP00000344757.2:p.Ile139MetfsTer22
ENST00000477538.1:n.676del
NM_000551.3:c.540del , LRG_322t1:c.540del	NP_000542.1:p.Ile180MetfsTer22
NM_198156.2:c.417del	NP_937799.1:p.Ile139MetfsTer22
NM_001354723.1:c.*94del	NP_001341652.1:n.*94del
NM_000551.4:c.540del MANE Select	NP_000542.1:p.Ile180MetfsTer22
NM_001354723.2:c.*94del	NP_001341652.1:n.*94del
NM_198156.3:c.417del	NP_937799.1:p.Ile139MetfsTer22