Canonical Allele Identifier: CA432423191

Gene: VHL

Linked Data

• COSMIC: COSM14419
• MyVariant Identifiers: chr3:g.10191495del (hg19)
• CIViC: CA432423191

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149811del , CM000665.2:g.10149811del	GRCh38
NC_000003.11:g.10191495del , CM000665.1:g.10191495del	GRCh37
NC_000003.10:g.10166495del	NCBI36
NG_008212.3:g.13177del , LRG_322:g.13177del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*165del	ENSP00000512434.1:n.*165del
ENST00000696143.1:c.624del	ENSP00000512435.1:n.624del
ENST00000696153.1:c.599del	ENSP00000512444.1:p.Leu200ProfsTer7
ENST00000256474.3:c.488del MANE Select	ENSP00000256474.3:p.Leu163ProfsTer7
ENST00000256474.2:c.488del	ENSP00000256474.2:p.Leu163ProfsTer7
ENST00000345392.2:c.365del	ENSP00000344757.2:p.Leu122ProfsTer7
ENST00000477538.1:n.624del
NM_000551.3:c.488del , LRG_322t1:c.488del	NP_000542.1:p.Leu163ProfsTer7
NM_198156.2:c.365del	NP_937799.1:p.Leu122ProfsTer7
NM_001354723.1:c.*42del	NP_001341652.1:n.*42del
NM_000551.4:c.488del MANE Select	NP_000542.1:p.Leu163ProfsTer7
NM_001354723.2:c.*42del	NP_001341652.1:n.*42del
NM_198156.3:c.365del	NP_937799.1:p.Leu122ProfsTer7