Canonical Allele Identifier: CA432421903
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146618_10146619insT , CM000665.2:g.10146618_10146619insT GRCh38
NC_000003.11:g.10188302_10188303insT , CM000665.1:g.10188302_10188303insT GRCh37
NC_000003.10:g.10163302_10163303insT NCBI36
NG_008212.3:g.9984_9985insT , LRG_322:g.9984_9985insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*122_*123insT ENSP00000512434.1:n.*122_*123insT
ENST00000696143.1:c.600-3169_600-3168insT ENSP00000512435.1:n.600-3169_600-3168insT
ENST00000696153.1:c.445_446insT ENSP00000512444.1:p.Ala149ValfsTer?
ENST00000256474.3:c.445_446insT MANE Select ENSP00000256474.3:p.Ala149ValfsTer25
ENST00000256474.2:c.445_446insT ENSP00000256474.2:p.Ala149ValfsTer25
ENST00000345392.2:c.341-3169_341-3168insT ENSP00000344757.2:n.341-3169_341-3168insT
ENST00000477538.1:n.581_582insT
NM_000551.3:c.445_446insT , LRG_322t1:c.445_446insT NP_000542.1:p.Ala149ValfsTer25
NM_198156.2:c.341-3169_341-3168insT NP_937799.1:n.341-3169_341-3168insT
NM_001354723.1:c.*18-3169_*18-3168insT NP_001341652.1:n.*18-3169_*18-3168insT
NM_000551.4:c.445_446insT MANE Select NP_000542.1:p.Ala149ValfsTer25
NM_001354723.2:c.*18-3169_*18-3168insT NP_001341652.1:n.*18-3169_*18-3168insT
NM_198156.3:c.341-3169_341-3168insT NP_937799.1:n.341-3169_341-3168insT