Canonical Allele Identifier: CA1345066374
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142155_10142156delinsCT , CM000665.2:g.10142155_10142156delinsCT GRCh38
NC_000003.11:g.10183839_10183840delinsCT , CM000665.1:g.10183839_10183840delinsCT GRCh37
NC_000003.10:g.10158839_10158840delinsCT NCBI36
NG_008212.3:g.5521_5522delinsCT , LRG_322:g.5521_5522delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.308_309delinsCT ENSP00000512434.1:p.Pro103=
ENST00000696143.1:c.308_309delinsCT ENSP00000512435.1:p.Pro103=
ENST00000696153.1:c.308_309delinsCT ENSP00000512444.1:p.Pro103=
ENST00000256474.3:c.308_309delinsCT MANE Select ENSP00000256474.3:p.Pro103=
ENST00000256474.2:c.308_309delinsCT ENSP00000256474.2:p.Pro103=
ENST00000345392.2:c.308_309delinsCT ENSP00000344757.2:p.Pro103=
NM_000551.3:c.308_309delinsCT , LRG_322t1:c.308_309delinsCT NP_000542.1:p.Pro103=
NM_198156.2:c.308_309delinsCT NP_937799.1:p.Pro103=
XM_011534078.1:c.308_309delinsCT XP_011532380.1:p.Pro103=
NM_001354723.1:c.308_309delinsCT NP_001341652.1:p.Pro103=
NM_000551.4:c.308_309delinsCT MANE Select NP_000542.1:p.Pro103=
NM_001354723.2:c.308_309delinsCT NP_001341652.1:p.Pro103=
NM_198156.3:c.308_309delinsCT NP_937799.1:p.Pro103=