Canonical Allele Identifier: CA1345069623

Gene: VHL

Linked Data

• dbSNP Id: rs1696255497

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146347dup , CM000665.2:g.10146347dup	GRCh38
NC_000003.11:g.10188031dup , CM000665.1:g.10188031dup	GRCh37
NC_000003.10:g.10163031dup	NCBI36
NG_008212.3:g.9713dup , LRG_322:g.9713dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-167dup	ENSP00000512434.1:n.*18-167dup
ENST00000696143.1:c.599+3326dup	ENSP00000512435.1:n.599+3326dup
ENST00000696153.1:c.341-167dup	ENSP00000512444.1:n.341-167dup
ENST00000256474.3:c.341-167dup MANE Select	ENSP00000256474.3:n.341-167dup
ENST00000256474.2:c.341-167dup	ENSP00000256474.2:n.341-167dup
ENST00000345392.2:c.341-3440dup	ENSP00000344757.2:n.341-3440dup
ENST00000477538.1:n.477-167dup
NM_000551.3:c.341-167dup , LRG_322t1:c.341-167dup	NP_000542.1:n.341-167dup
NM_198156.2:c.341-3440dup	NP_937799.1:n.341-3440dup
XM_011534078.1:c.*18-167dup	XP_011532380.1:n.*18-167dup
NM_001354723.1:c.*17+3326dup	NP_001341652.1:n.*17+3326dup
NM_000551.4:c.341-167dup MANE Select	NP_000542.1:n.341-167dup
NM_001354723.2:c.*17+3326dup	NP_001341652.1:n.*17+3326dup
NM_198156.3:c.341-3440dup	NP_937799.1:n.341-3440dup