Canonical Allele Identifier: CA658820709
Gene: VHL HGNC NCBI

Linked Data

CIViC: CA658820709
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142173del , CM000665.2:g.10142173del GRCh38
NC_000003.11:g.10183857del , CM000665.1:g.10183857del GRCh37
NC_000003.10:g.10158857del NCBI36
NG_008212.3:g.5539del , LRG_322:g.5539del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.326del ENSP00000512434.1:p.Ile109ThrfsTer8
ENST00000696143.1:c.326del ENSP00000512435.1:p.Ile109ThrfsTer8
ENST00000696153.1:c.326del ENSP00000512444.1:p.Ile109ThrfsTer?
ENST00000256474.3:c.326del MANE Select ENSP00000256474.3:p.Ile109ThrfsTer?
ENST00000256474.2:c.326del ENSP00000256474.2:p.Ile109ThrfsTer?
ENST00000345392.2:c.326del ENSP00000344757.2:p.Ile109ThrfsTer9
NM_000551.3:c.326del , LRG_322t1:c.326del NP_000542.1:p.Ile109ThrfsTer?
NM_198156.2:c.326del NP_937799.1:p.Ile109ThrfsTer9
XM_011534078.1:c.326del XP_011532380.1:p.Ile109ThrfsTer8
NM_001354723.1:c.326del NP_001341652.1:p.Ile109ThrfsTer8
NM_000551.4:c.326del MANE Select NP_000542.1:p.Ile109ThrfsTer?
NM_001354723.2:c.326del NP_001341652.1:p.Ile109ThrfsTer8
NM_198156.3:c.326del NP_937799.1:p.Ile109ThrfsTer9
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