Canonical Allele Identifier: CA1345064834

Gene: VHL

Linked Data

• ClinVar Variation Id: 1035305
• ClinVar RCV Id: RCV001338153
• dbSNP Id: rs1696114336

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141869_10141874dup , CM000665.2:g.10141869_10141874dup	GRCh38
NC_000003.11:g.10183553_10183558dup , CM000665.1:g.10183553_10183558dup	GRCh37
NC_000003.10:g.10158553_10158558dup	NCBI36
NG_008212.3:g.5235_5240dup , LRG_322:g.5235_5240dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.22_27dup	ENSP00000512434.1:p.Asp9_Glu10insTrpAsp
ENST00000696143.1:c.22_27dup	ENSP00000512435.1:p.Asp9_Glu10insTrpAsp
ENST00000696153.1:c.22_27dup	ENSP00000512444.1:p.Asp9_Glu10insTrpAsp
ENST00000256474.3:c.22_27dup MANE Select	ENSP00000256474.3:p.Asp9_Glu10insTrpAsp
ENST00000256474.2:c.22_27dup	ENSP00000256474.2:p.Asp9_Glu10insTrpAsp
ENST00000345392.2:c.22_27dup	ENSP00000344757.2:p.Asp9_Glu10insTrpAsp
NM_000551.3:c.22_27dup , LRG_322t1:c.22_27dup	NP_000542.1:p.Asp9_Glu10insTrpAsp
NM_198156.2:c.22_27dup	NP_937799.1:p.Asp9_Glu10insTrpAsp
XM_011534078.1:c.22_27dup	XP_011532380.1:p.Asp9_Glu10insTrpAsp
NM_001354723.1:c.22_27dup	NP_001341652.1:p.Asp9_Glu10insTrpAsp
NM_000551.4:c.22_27dup MANE Select	NP_000542.1:p.Asp9_Glu10insTrpAsp
NM_001354723.2:c.22_27dup	NP_001341652.1:p.Asp9_Glu10insTrpAsp
NM_198156.3:c.22_27dup	NP_937799.1:p.Asp9_Glu10insTrpAsp