Canonical Allele Identifier: CA432421852
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM14406
MyVariant Identifiers: chr3:g.10188261del (hg19)
PCER: P-CER:CA432421852/193300
CIViC: CA432421852
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146577del , CM000665.2:g.10146577del GRCh38
NC_000003.11:g.10188261del , CM000665.1:g.10188261del GRCh37
NC_000003.10:g.10163261del NCBI36
NG_008212.3:g.9943del , LRG_322:g.9943del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*81del ENSP00000512434.1:n.*81del
ENST00000696143.1:c.600-3210del ENSP00000512435.1:n.600-3210del
ENST00000696153.1:c.404del ENSP00000512444.1:p.Leu135TyrfsTer?
ENST00000256474.3:c.404del MANE Select ENSP00000256474.3:p.Leu135TyrfsTer24
ENST00000256474.2:c.404del ENSP00000256474.2:p.Leu135TyrfsTer24
ENST00000345392.2:c.341-3210del ENSP00000344757.2:n.341-3210del
ENST00000477538.1:n.540del
NM_000551.3:c.404del , LRG_322t1:c.404del NP_000542.1:p.Leu135TyrfsTer24
NM_198156.2:c.341-3210del NP_937799.1:n.341-3210del
XM_011534078.1:c.*81del XP_011532380.1:n.*81del
NM_001354723.1:c.*18-3210del NP_001341652.1:n.*18-3210del
NM_000551.4:c.404del MANE Select NP_000542.1:p.Leu135TyrfsTer24
NM_001354723.2:c.*18-3210del NP_001341652.1:n.*18-3210del
NM_198156.3:c.341-3210del NP_937799.1:n.341-3210del
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