Canonical Allele Identifier: CA645369330

Gene: VHL

Linked Data

• ClinVar Variation Id: 428797
• ClinVar RCV Id: RCV000492267
• dbSNP Id: rs1131690955
• MyVariant Identifiers: chr3:g.10188275_10188276insA (hg19) ; chr3:g.10146591_10146592insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146591_10146592insA , CM000665.2:g.10146591_10146592insA	GRCh38
NC_000003.11:g.10188275_10188276insA , CM000665.1:g.10188275_10188276insA	GRCh37
NC_000003.10:g.10163275_10163276insA	NCBI36
NG_008212.3:g.9957_9958insA , LRG_322:g.9957_9958insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*95_*96insA	ENSP00000512434.1:n.*95_*96insA
ENST00000696143.1:c.600-3196_600-3195insA	ENSP00000512435.1:n.600-3196_600-3195insA
ENST00000696153.1:c.418_419insA	ENSP00000512444.1:p.Leu140HisfsTer4
ENST00000256474.3:c.418_419insA MANE Select	ENSP00000256474.3:p.Leu140HisfsTer4
ENST00000256474.2:c.418_419insA	ENSP00000256474.2:p.Leu140HisfsTer4
ENST00000345392.2:c.341-3196_341-3195insA	ENSP00000344757.2:n.341-3196_341-3195insA
ENST00000477538.1:n.554_555insA
NM_000551.3:c.418_419insA , LRG_322t1:c.418_419insA	NP_000542.1:p.Leu140HisfsTer4
NM_198156.2:c.341-3196_341-3195insA	NP_937799.1:n.341-3196_341-3195insA
XM_011534078.1:c.*95_*96insA	XP_011532380.1:n.*95_*96insA
NM_001354723.1:c.*18-3196_*18-3195insA	NP_001341652.1:n.*18-3196_*18-3195insA
NM_000551.4:c.418_419insA MANE Select	NP_000542.1:p.Leu140HisfsTer4
NM_001354723.2:c.*18-3196_*18-3195insA	NP_001341652.1:n.*18-3196_*18-3195insA
NM_198156.3:c.341-3196_341-3195insA	NP_937799.1:n.341-3196_341-3195insA