Canonical Allele Identifier: CA645524968

Gene: VHL

Linked Data

• COSMIC: COSM6023882

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146599dup , CM000665.2:g.10146599dup	GRCh38
NC_000003.11:g.10188283dup , CM000665.1:g.10188283dup	GRCh37
NC_000003.10:g.10163283dup	NCBI36
NG_008212.3:g.9965dup , LRG_322:g.9965dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*103dup	ENSP00000512434.1:n.*103dup
ENST00000696143.1:c.600-3188dup	ENSP00000512435.1:n.600-3188dup
ENST00000696153.1:c.426dup	ENSP00000512444.1:p.Asp143Ter
ENST00000256474.3:c.426dup MANE Select	ENSP00000256474.3:p.Asp143Ter
ENST00000256474.2:c.426dup	ENSP00000256474.2:p.Asp143Ter
ENST00000345392.2:c.341-3188dup	ENSP00000344757.2:n.341-3188dup
ENST00000477538.1:n.562dup
NM_000551.3:c.426dup , LRG_322t1:c.426dup	NP_000542.1:p.Asp143Ter
NM_198156.2:c.341-3188dup	NP_937799.1:n.341-3188dup
XM_011534078.1:c.*103dup	XP_011532380.1:n.*103dup
NM_001354723.1:c.*18-3188dup	NP_001341652.1:n.*18-3188dup
NM_000551.4:c.426dup MANE Select	NP_000542.1:p.Asp143Ter
NM_001354723.2:c.*18-3188dup	NP_001341652.1:n.*18-3188dup
NM_198156.3:c.341-3188dup	NP_937799.1:n.341-3188dup