Canonical Allele Identifier: CA432421784
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM34025
MyVariant Identifiers: chr3:g.10188200del (hg19)
CIViC: CA432421784
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146516del , CM000665.2:g.10146516del GRCh38
NC_000003.11:g.10188200del , CM000665.1:g.10188200del GRCh37
NC_000003.10:g.10163200del NCBI36
NG_008212.3:g.9882del , LRG_322:g.9882del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*20del ENSP00000512434.1:n.*20del
ENST00000696143.1:c.600-3271del ENSP00000512435.1:n.600-3271del
ENST00000696153.1:c.343del ENSP00000512444.1:p.His115ThrfsTer?
ENST00000256474.3:c.343del MANE Select ENSP00000256474.3:p.His115ThrfsTer?
ENST00000256474.2:c.343del ENSP00000256474.2:p.His115ThrfsTer?
ENST00000345392.2:c.341-3271del ENSP00000344757.2:n.341-3271del
ENST00000477538.1:n.479del
NM_000551.3:c.343del , LRG_322t1:c.343del NP_000542.1:p.His115ThrfsTer?
NM_198156.2:c.341-3271del NP_937799.1:n.341-3271del
XM_011534078.1:c.*20del XP_011532380.1:n.*20del
NM_001354723.1:c.*18-3271del NP_001341652.1:n.*18-3271del
NM_000551.4:c.343del MANE Select NP_000542.1:p.His115ThrfsTer?
NM_001354723.2:c.*18-3271del NP_001341652.1:n.*18-3271del
NM_198156.3:c.341-3271del NP_937799.1:n.341-3271del
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