Canonical Allele Identifier: CA2664402504

Gene: VHL

Linked Data

• gnomAD v4: 3-10143116-A-ATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143116_10143117insTTTT , CM000665.2:g.10143116_10143117insTTTT	GRCh38
NC_000003.11:g.10184800_10184801insTTTT , CM000665.1:g.10184800_10184801insTTTT	GRCh37
NC_000003.10:g.10159800_10159801insTTTT	NCBI36
NG_008212.3:g.6482_6483insTTTT , LRG_322:g.6482_6483insTTTT

Transcript Alleles

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