Canonical Allele Identifier: CA432423514

Gene: VHL

Linked Data

• COSMIC: COSM18403
• MyVariant Identifiers: chr3:g.10191543del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149859del , CM000665.2:g.10149859del	GRCh38
NC_000003.11:g.10191543del , CM000665.1:g.10191543del	GRCh37
NC_000003.10:g.10166543del	NCBI36
NG_008212.3:g.13225del , LRG_322:g.13225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*213del	ENSP00000512434.1:n.*213del
ENST00000696143.1:c.672del	ENSP00000512435.1:n.672del
ENST00000696153.1:c.647del	ENSP00000512444.1:p.Asp216AlafsTer23
ENST00000256474.3:c.536del MANE Select	ENSP00000256474.3:p.Asp179AlafsTer23
ENST00000256474.2:c.536del	ENSP00000256474.2:p.Asp179AlafsTer23
ENST00000345392.2:c.413del	ENSP00000344757.2:p.Asp138AlafsTer23
ENST00000477538.1:n.672del
NM_000551.3:c.536del , LRG_322t1:c.536del	NP_000542.1:p.Asp179AlafsTer23
NM_198156.2:c.413del	NP_937799.1:p.Asp138AlafsTer23
NM_001354723.1:c.*90del	NP_001341652.1:n.*90del
NM_000551.4:c.536del MANE Select	NP_000542.1:p.Asp179AlafsTer23
NM_001354723.2:c.*90del	NP_001341652.1:n.*90del
NM_198156.3:c.413del	NP_937799.1:p.Asp138AlafsTer23