Canonical Allele Identifier: CA2664402507
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10143116_10143117insT , CM000665.2:g.10143116_10143117insT GRCh38
NC_000003.11:g.10184800_10184801insT , CM000665.1:g.10184800_10184801insT GRCh37
NC_000003.10:g.10159800_10159801insT NCBI36
NG_008212.3:g.6482_6483insT , LRG_322:g.6482_6483insT

Transcript Alleles

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