Canonical Allele Identifier: CA913190156

Gene: VHL

Linked Data

• ClinVar Variation Id: 625243
• ClinVar RCV Id: RCV000767265
• dbSNP Id: rs1559428128

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146566_10146567dup , CM000665.2:g.10146566_10146567dup	GRCh38
NC_000003.11:g.10188250_10188251dup , CM000665.1:g.10188250_10188251dup	GRCh37
NC_000003.10:g.10163250_10163251dup	NCBI36
NG_008212.3:g.9932_9933dup , LRG_322:g.9932_9933dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*70_*71dup	ENSP00000512434.1:n.*70_*71dup
ENST00000696143.1:c.600-3221_600-3220dup	ENSP00000512435.1:n.600-3221_600-3220dup
ENST00000696153.1:c.393_394dup	ENSP00000512444.1:p.Gln132ProfsTer?
ENST00000256474.3:c.393_394dup MANE Select	ENSP00000256474.3:p.Gln132ProfsTer28
ENST00000256474.2:c.393_394dup	ENSP00000256474.2:p.Gln132ProfsTer28
ENST00000345392.2:c.341-3221_341-3220dup	ENSP00000344757.2:n.341-3221_341-3220dup
ENST00000477538.1:n.529_530dup
NM_000551.3:c.393_394dup , LRG_322t1:c.393_394dup	NP_000542.1:p.Gln132ProfsTer28
NM_198156.2:c.341-3221_341-3220dup	NP_937799.1:n.341-3221_341-3220dup
XM_011534078.1:c.*70_*71dup	XP_011532380.1:n.*70_*71dup
NM_001354723.1:c.*18-3221_*18-3220dup	NP_001341652.1:n.*18-3221_*18-3220dup
NM_000551.4:c.393_394dup MANE Select	NP_000542.1:p.Gln132ProfsTer28
NM_001354723.2:c.*18-3221_*18-3220dup	NP_001341652.1:n.*18-3221_*18-3220dup
NM_198156.3:c.341-3221_341-3220dup	NP_937799.1:n.341-3221_341-3220dup