Canonical Allele Identifier: CA432423300
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM18262
MyVariant Identifiers: chr3:g.10191510del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149826del , CM000665.2:g.10149826del GRCh38
NC_000003.11:g.10191510del , CM000665.1:g.10191510del GRCh37
NC_000003.10:g.10166510del NCBI36
NG_008212.3:g.13192del , LRG_322:g.13192del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*180del ENSP00000512434.1:n.*180del
ENST00000696143.1:c.639del ENSP00000512435.1:n.639del
ENST00000696153.1:c.614del ENSP00000512444.1:p.Ser205ThrfsTer2
ENST00000256474.3:c.503del MANE Select ENSP00000256474.3:p.Ser168ThrfsTer2
ENST00000256474.2:c.503del ENSP00000256474.2:p.Ser168ThrfsTer2
ENST00000345392.2:c.380del ENSP00000344757.2:p.Ser127ThrfsTer2
ENST00000477538.1:n.639del
NM_000551.3:c.503del , LRG_322t1:c.503del NP_000542.1:p.Ser168ThrfsTer2
NM_198156.2:c.380del NP_937799.1:p.Ser127ThrfsTer2
NM_001354723.1:c.*57del NP_001341652.1:n.*57del
NM_000551.4:c.503del MANE Select NP_000542.1:p.Ser168ThrfsTer2
NM_001354723.2:c.*57del NP_001341652.1:n.*57del
NM_198156.3:c.380del NP_937799.1:p.Ser127ThrfsTer2