Canonical Allele Identifier: CA1345065181

Gene: VHL

Linked Data

• ClinVar Variation Id: 1019042
• ClinVar RCV Id: RCV001318425
• dbSNP Id: rs1696119887

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141940_10141969dup , CM000665.2:g.10141940_10141969dup	GRCh38
NC_000003.11:g.10183624_10183653dup , CM000665.1:g.10183624_10183653dup	GRCh37
NC_000003.10:g.10158624_10158653dup	NCBI36
NG_008212.3:g.5306_5335dup , LRG_322:g.5306_5335dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.93_122dup	ENSP00000512434.1:p.Glu41_Glu42insGluSerG...
ENST00000696143.1:c.93_122dup	ENSP00000512435.1:p.Glu41_Glu42insGluSerG...
ENST00000696153.1:c.93_122dup	ENSP00000512444.1:p.Glu41_Glu42insGluSerG...
ENST00000256474.3:c.93_122dup MANE Select	ENSP00000256474.3:p.Glu41_Glu42insGluSerG...
ENST00000256474.2:c.93_122dup	ENSP00000256474.2:p.Glu41_Glu42insGluSerG...
ENST00000345392.2:c.93_122dup	ENSP00000344757.2:p.Glu41_Glu42insGluSerG...
NM_000551.3:c.93_122dup , LRG_322t1:c.93_122dup	NP_000542.1:p.Glu41_Glu42insGluSerGlyAlaG...
NM_198156.2:c.93_122dup	NP_937799.1:p.Glu41_Glu42insGluSerGlyAlaG...
XM_011534078.1:c.93_122dup	XP_011532380.1:p.Glu41_Glu42insGluSerGlyA...
NM_001354723.1:c.93_122dup	NP_001341652.1:p.Glu41_Glu42insGluSerGlyA...
NM_000551.4:c.93_122dup MANE Select	NP_000542.1:p.Glu41_Glu42insGluSerGlyAlaG...
NM_001354723.2:c.93_122dup	NP_001341652.1:p.Glu41_Glu42insGluSerGlyA...
NM_198156.3:c.93_122dup	NP_937799.1:p.Glu41_Glu42insGluSerGlyAlaG...