Canonical Allele Identifier: CA432420531

Gene: VHL

Linked Data

• COSMIC: COSM17888
• MyVariant Identifiers: chr3:g.10183837del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142153del , CM000665.2:g.10142153del	GRCh38
NC_000003.11:g.10183837del , CM000665.1:g.10183837del	GRCh37
NC_000003.10:g.10158837del	NCBI36
NG_008212.3:g.5519del , LRG_322:g.5519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.306del	ENSP00000512434.1:p.Pro103LeufsTer14
ENST00000696143.1:c.306del	ENSP00000512435.1:p.Pro103LeufsTer14
ENST00000696153.1:c.306del	ENSP00000512444.1:p.Pro103LeufsTer?
ENST00000256474.3:c.306del MANE Select	ENSP00000256474.3:p.Pro103LeufsTer?
ENST00000256474.2:c.306del	ENSP00000256474.2:p.Pro103LeufsTer?
ENST00000345392.2:c.306del	ENSP00000344757.2:p.Pro103LeufsTer15
NM_000551.3:c.306del , LRG_322t1:c.306del	NP_000542.1:p.Pro103LeufsTer?
NM_198156.2:c.306del	NP_937799.1:p.Pro103LeufsTer15
XM_011534078.1:c.306del	XP_011532380.1:p.Pro103LeufsTer14
NM_001354723.1:c.306del	NP_001341652.1:p.Pro103LeufsTer14
NM_000551.4:c.306del MANE Select	NP_000542.1:p.Pro103LeufsTer?
NM_001354723.2:c.306del	NP_001341652.1:p.Pro103LeufsTer14
NM_198156.3:c.306del	NP_937799.1:p.Pro103LeufsTer15