Canonical Allele Identifier: CA645524930
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM18354

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146569_10146570del , CM000665.2:g.10146569_10146570del GRCh38
NC_000003.11:g.10188253_10188254del , CM000665.1:g.10188253_10188254del GRCh37
NC_000003.10:g.10163253_10163254del NCBI36
NG_008212.3:g.9935_9936del , LRG_322:g.9935_9936del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*73_*74del ENSP00000512434.1:n.*73_*74del
ENST00000696143.1:c.600-3218_600-3217del ENSP00000512435.1:n.600-3218_600-3217del
ENST00000696153.1:c.396_397del ENSP00000512444.1:p.Gln132HisfsTer2
ENST00000256474.3:c.396_397del MANE Select ENSP00000256474.3:p.Gln132HisfsTer2
ENST00000256474.2:c.396_397del ENSP00000256474.2:p.Gln132HisfsTer2
ENST00000345392.2:c.341-3218_341-3217del ENSP00000344757.2:n.341-3218_341-3217del
ENST00000477538.1:n.532_533del
NM_000551.3:c.396_397del , LRG_322t1:c.396_397del NP_000542.1:p.Gln132HisfsTer2
NM_198156.2:c.341-3218_341-3217del NP_937799.1:n.341-3218_341-3217del
XM_011534078.1:c.*73_*74del XP_011532380.1:n.*73_*74del
NM_001354723.1:c.*18-3218_*18-3217del NP_001341652.1:n.*18-3218_*18-3217del
NM_000551.4:c.396_397del MANE Select NP_000542.1:p.Gln132HisfsTer2
NM_001354723.2:c.*18-3218_*18-3217del NP_001341652.1:n.*18-3218_*18-3217del
NM_198156.3:c.341-3218_341-3217del NP_937799.1:n.341-3218_341-3217del