Canonical Allele Identifier: CA891843324

Gene: VHL

Linked Data

• ClinVar Variation Id: 578561
• ClinVar RCV Id: RCV000701611
• dbSNP Id: rs1559428103
• MyVariant Identifiers: chr3:g.10188236_10188237insCAG (hg19) ; chr3:g.10146552_10146553insCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146552_10146553insCAG , CM000665.2:g.10146552_10146553insCAG	GRCh38
NC_000003.11:g.10188236_10188237insCAG , CM000665.1:g.10188236_10188237insCAG	GRCh37
NC_000003.10:g.10163236_10163237insCAG	NCBI36
NG_008212.3:g.9918_9919insCAG , LRG_322:g.9918_9919insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*56_*57insCAG	ENSP00000512434.1:n.*56_*57insCAG
ENST00000696143.1:c.600-3235_600-3234insCAG	ENSP00000512435.1:n.600-3235_600-3234insCAG
ENST00000696153.1:c.379_380insCAG	ENSP00000512444.1:p.Asp126_Gly127insAla
ENST00000256474.3:c.379_380insCAG MANE Select	ENSP00000256474.3:p.Asp126_Gly127insAla
ENST00000256474.2:c.379_380insCAG	ENSP00000256474.2:p.Asp126_Gly127insAla
ENST00000345392.2:c.341-3235_341-3234insCAG	ENSP00000344757.2:n.341-3235_341-3234insCAG
ENST00000477538.1:n.515_516insCAG
NM_000551.3:c.379_380insCAG , LRG_322t1:c.379_380insCAG	NP_000542.1:p.Asp126_Gly127insAla
NM_198156.2:c.341-3235_341-3234insCAG	NP_937799.1:n.341-3235_341-3234insCAG
XM_011534078.1:c.*56_*57insCAG	XP_011532380.1:n.*56_*57insCAG
NM_001354723.1:c.*18-3235_*18-3234insCAG	NP_001341652.1:n.*18-3235_*18-3234insCAG
NM_000551.4:c.379_380insCAG MANE Select	NP_000542.1:p.Asp126_Gly127insAla
NM_001354723.2:c.*18-3235_*18-3234insCAG	NP_001341652.1:n.*18-3235_*18-3234insCAG
NM_198156.3:c.341-3235_341-3234insCAG	NP_937799.1:n.341-3235_341-3234insCAG