Canonical Allele Identifier: CA432421818

Gene: VHL

Linked Data

• COSMIC: COSM18277
• MyVariant Identifiers: chr3:g.10188230del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146546del , CM000665.2:g.10146546del	GRCh38
NC_000003.11:g.10188230del , CM000665.1:g.10188230del	GRCh37
NC_000003.10:g.10163230del	NCBI36
NG_008212.3:g.9912del , LRG_322:g.9912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*50del	ENSP00000512434.1:n.*50del
ENST00000696143.1:c.600-3241del	ENSP00000512435.1:n.600-3241del
ENST00000696153.1:c.373del	ENSP00000512444.1:p.His125ThrfsTer?
ENST00000256474.3:c.373del MANE Select	ENSP00000256474.3:p.His125ThrfsTer?
ENST00000256474.2:c.373del	ENSP00000256474.2:p.His125ThrfsTer?
ENST00000345392.2:c.341-3241del	ENSP00000344757.2:n.341-3241del
ENST00000477538.1:n.509del
NM_000551.3:c.373del , LRG_322t1:c.373del	NP_000542.1:p.His125ThrfsTer?
NM_198156.2:c.341-3241del	NP_937799.1:n.341-3241del
XM_011534078.1:c.*50del	XP_011532380.1:n.*50del
NM_001354723.1:c.*18-3241del	NP_001341652.1:n.*18-3241del
NM_000551.4:c.373del MANE Select	NP_000542.1:p.His125ThrfsTer?
NM_001354723.2:c.*18-3241del	NP_001341652.1:n.*18-3241del
NM_198156.3:c.341-3241del	NP_937799.1:n.341-3241del