Canonical Allele Identifier: CA432536395
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM1731985
MyVariant Identifiers: chr3:g.10183725del (hg19)
PCER: P-CER:CA432536395/193300
CIViC: CA432536395
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142041del , CM000665.2:g.10142041del GRCh38
NC_000003.11:g.10183725del , CM000665.1:g.10183725del GRCh37
NC_000003.10:g.10158725del NCBI36
NG_008212.3:g.5407del , LRG_322:g.5407del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.194del ENSP00000512434.1:p.Ser65TrpfsTer2
ENST00000696143.1:c.194del ENSP00000512435.1:p.Ser65TrpfsTer2
ENST00000696153.1:c.194del ENSP00000512444.1:p.Ser65TrpfsTer2
ENST00000256474.3:c.194del MANE Select ENSP00000256474.3:p.Ser65TrpfsTer2
ENST00000256474.2:c.194del ENSP00000256474.2:p.Ser65TrpfsTer2
ENST00000345392.2:c.194del ENSP00000344757.2:p.Ser65TrpfsTer2
NM_000551.3:c.194del , LRG_322t1:c.194del NP_000542.1:p.Ser65TrpfsTer2
NM_198156.2:c.194del NP_937799.1:p.Ser65TrpfsTer2
XM_011534078.1:c.194del XP_011532380.1:p.Ser65TrpfsTer2
NM_001354723.1:c.194del NP_001341652.1:p.Ser65TrpfsTer2
NM_000551.4:c.194del MANE Select NP_000542.1:p.Ser65TrpfsTer2
NM_001354723.2:c.194del NP_001341652.1:p.Ser65TrpfsTer2
NM_198156.3:c.194del NP_937799.1:p.Ser65TrpfsTer2
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