Canonical Allele Identifier: CA3266346860
Community Standard Title: NM_000551.4(VHL):c.155_204del (p.Glu52AlafsTer?)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142002_10142051del , CM000665.2:g.10142002_10142051del GRCh38
NC_000003.11:g.10183686_10183735del , CM000665.1:g.10183686_10183735del GRCh37
NC_000003.10:g.10158686_10158735del NCBI36
NG_008212.3:g.5368_5417del , LRG_322:g.5368_5417del

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.155_204del MANE Select NP_000542.1:p.Glu52AlafsTer?
ENST00000256474.3:c.155_204del MANE Select ENSP00000256474.3:p.Glu52AlafsTer?
NM_000551.3:c.155_204del , LRG_322t1:c.155_204del NP_000542.1:p.Glu52AlafsTer?
NM_001354723.1:c.155_204del NP_001341652.1:p.Glu52AlafsTer?
NM_001354723.2:c.155_204del NP_001341652.1:p.Glu52AlafsTer?
NM_198156.2:c.155_204del NP_937799.1:p.Glu52AlafsTer?
NM_198156.3:c.155_204del NP_937799.1:p.Glu52AlafsTer?
ENST00000256474.2:c.155_204del ENSP00000256474.2:p.Glu52AlafsTer?
ENST00000345392.2:c.155_204del ENSP00000344757.2:p.Glu52AlafsTer?
ENST00000696142.1:c.155_204del ENSP00000512434.1:p.Glu52AlafsTer?
ENST00000696143.1:c.155_204del ENSP00000512435.1:p.Glu52AlafsTer?
ENST00000696153.1:c.155_204del ENSP00000512444.1:p.Glu52AlafsTer?
XM_011534078.1:c.155_204del XP_011532380.1:p.Glu52AlafsTer?
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