Canonical Allele Identifier: CA896161364

Gene: VHL

Linked Data

• dbSNP Id: rs1247481719
• MyVariant Identifiers: chr3:g.10185997_10185998insG (hg19) ; chr3:g.10144313_10144314insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144313_10144314insG , CM000665.2:g.10144313_10144314insG	GRCh38
NC_000003.11:g.10185997_10185998insG , CM000665.1:g.10185997_10185998insG	GRCh37
NC_000003.10:g.10160997_10160998insG	NCBI36
NG_008212.3:g.7679_7680insG , LRG_322:g.7679_7680insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1292_*17+1293insG	ENSP00000512434.1:n.*17+1292_*17+1293insG
ENST00000696143.1:c.599+1292_599+1293insG	ENSP00000512435.1:n.599+1292_599+1293insG
ENST00000696153.1:c.340+2126_340+2127insG	ENSP00000512444.1:n.340+2126_340+2127insG
ENST00000256474.3:c.340+2126_340+2127insG MANE Select	ENSP00000256474.3:n.340+2126_340+2127insG
ENST00000256474.2:c.340+2126_340+2127insG	ENSP00000256474.2:n.340+2126_340+2127insG
ENST00000345392.2:c.340+2126_340+2127insG	ENSP00000344757.2:n.340+2126_340+2127insG
ENST00000477538.1:n.476+1292_476+1293insG
NM_000551.3:c.340+2126_340+2127insG , LRG_322t1:c.340+2126_340+2127insG	NP_000542.1:n.340+2126_340+2127insG
NM_198156.2:c.340+2126_340+2127insG	NP_937799.1:n.340+2126_340+2127insG
XM_011534078.1:c.*17+1292_*17+1293insG	XP_011532380.1:n.*17+1292_*17+1293insG
NM_001354723.1:c.*17+1292_*17+1293insG	NP_001341652.1:n.*17+1292_*17+1293insG
NM_000551.4:c.340+2126_340+2127insG MANE Select	NP_000542.1:n.340+2126_340+2127insG
NM_001354723.2:c.*17+1292_*17+1293insG	NP_001341652.1:n.*17+1292_*17+1293insG
NM_198156.3:c.340+2126_340+2127insG	NP_937799.1:n.340+2126_340+2127insG