Canonical Allele Identifier: CA1044995618

Gene: VHL

Linked Data

• dbSNP Id: rs1696167586
• gnomAD v3: 3-10143116-A-ATT
• gnomAD v4: 3-10143116-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143116_10143117insTT , CM000665.2:g.10143116_10143117insTT	GRCh38
NC_000003.11:g.10184800_10184801insTT , CM000665.1:g.10184800_10184801insTT	GRCh37
NC_000003.10:g.10159800_10159801insTT	NCBI36
NG_008212.3:g.6482_6483insTT , LRG_322:g.6482_6483insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+95_*17+96insTT	ENSP00000512434.1:n.*17+95_*17+96insTT
ENST00000696143.1:c.599+95_599+96insTT	ENSP00000512435.1:n.599+95_599+96insTT
ENST00000696153.1:c.340+929_340+930insTT	ENSP00000512444.1:n.340+929_340+930insTT
ENST00000256474.3:c.340+929_340+930insTT MANE Select	ENSP00000256474.3:n.340+929_340+930insTT
ENST00000256474.2:c.340+929_340+930insTT	ENSP00000256474.2:n.340+929_340+930insTT
ENST00000345392.2:c.340+929_340+930insTT	ENSP00000344757.2:n.340+929_340+930insTT
ENST00000477538.1:n.476+95_476+96insTT
NM_000551.3:c.340+929_340+930insTT , LRG_322t1:c.340+929_340+930insTT	NP_000542.1:n.340+929_340+930insTT
NM_198156.2:c.340+929_340+930insTT	NP_937799.1:n.340+929_340+930insTT
XM_011534078.1:c.*17+95_*17+96insTT	XP_011532380.1:n.*17+95_*17+96insTT
NM_001354723.1:c.*17+95_*17+96insTT	NP_001341652.1:n.*17+95_*17+96insTT
NM_000551.4:c.340+929_340+930insTT MANE Select	NP_000542.1:n.340+929_340+930insTT
NM_001354723.2:c.*17+95_*17+96insTT	NP_001341652.1:n.*17+95_*17+96insTT
NM_198156.3:c.340+929_340+930insTT	NP_937799.1:n.340+929_340+930insTT