Canonical Allele Identifier: CA645524819
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM17686

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142138_10142157del , CM000665.2:g.10142138_10142157del GRCh38
NC_000003.11:g.10183822_10183841del , CM000665.1:g.10183822_10183841del GRCh37
NC_000003.10:g.10158822_10158841del NCBI36
NG_008212.3:g.5504_5523del , LRG_322:g.5504_5523del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.291_310del ENSP00000512434.1:p.Tyr98HisfsTer?
ENST00000696143.1:c.291_310del ENSP00000512435.1:p.Tyr98HisfsTer?
ENST00000696153.1:c.291_310del ENSP00000512444.1:p.Tyr98HisfsTer27
ENST00000256474.3:c.291_310del MANE Select ENSP00000256474.3:p.Tyr98HisfsTer27
ENST00000256474.2:c.291_310del ENSP00000256474.2:p.Tyr98HisfsTer27
ENST00000345392.2:c.291_310del ENSP00000344757.2:p.Tyr98HisfsTer28
NM_000551.3:c.291_310del , LRG_322t1:c.291_310del NP_000542.1:p.Tyr98HisfsTer27
NM_198156.2:c.291_310del NP_937799.1:p.Tyr98HisfsTer28
XM_011534078.1:c.291_310del XP_011532380.1:p.Tyr98HisfsTer?
NM_001354723.1:c.291_310del NP_001341652.1:p.Tyr98HisfsTer?
NM_000551.4:c.291_310del MANE Select NP_000542.1:p.Tyr98HisfsTer27
NM_001354723.2:c.291_310del NP_001341652.1:p.Tyr98HisfsTer?
NM_198156.3:c.291_310del NP_937799.1:p.Tyr98HisfsTer28