Canonical Allele Identifier: CA645524640
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142010_10142039del , CM000665.2:g.10142010_10142039del GRCh38
NC_000003.11:g.10183694_10183723del , CM000665.1:g.10183694_10183723del GRCh37
NC_000003.10:g.10158694_10158723del NCBI36
NG_008212.3:g.5376_5405del , LRG_322:g.5376_5405del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.163_192del ENSP00000512434.1:p.Glu55_Arg64del
ENST00000696143.1:c.163_192del ENSP00000512435.1:p.Glu55_Arg64del
ENST00000696153.1:c.163_192del ENSP00000512444.1:p.Glu55_Arg64del
ENST00000256474.3:c.163_192del MANE Select ENSP00000256474.3:p.Glu55_Arg64del
ENST00000256474.2:c.163_192del ENSP00000256474.2:p.Glu55_Arg64del
ENST00000345392.2:c.163_192del ENSP00000344757.2:p.Glu55_Arg64del
NM_000551.3:c.163_192del , LRG_322t1:c.163_192del NP_000542.1:p.Glu55_Arg64del
NM_198156.2:c.163_192del NP_937799.1:p.Glu55_Arg64del
XM_011534078.1:c.163_192del XP_011532380.1:p.Glu55_Arg64del
NM_001354723.1:c.163_192del NP_001341652.1:p.Glu55_Arg64del
NM_000551.4:c.163_192del MANE Select NP_000542.1:p.Glu55_Arg64del
NM_001354723.2:c.163_192del NP_001341652.1:p.Glu55_Arg64del
NM_198156.3:c.163_192del NP_937799.1:p.Glu55_Arg64del