Canonical Allele Identifier: CA432423679
Community Standard Title: NM_000551.4(VHL):c.563del (p.Leu188ArgfsTer14)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149886del , CM000665.2:g.10149886del GRCh38
NC_000003.11:g.10191570del , CM000665.1:g.10191570del GRCh37
NC_000003.10:g.10166570del NCBI36
NG_008212.3:g.13252del , LRG_322:g.13252del

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.563del MANE Select NP_000542.1:p.Leu188ArgfsTer14
ENST00000256474.3:c.563del MANE Select ENSP00000256474.3:p.Leu188ArgfsTer14
NM_000551.3:c.563del , LRG_322t1:c.563del NP_000542.1:p.Leu188ArgfsTer14
NM_001354723.1:c.*117del NP_001341652.1:n.*117del
NM_001354723.2:c.*117del NP_001341652.1:n.*117del
NM_198156.2:c.440del NP_937799.1:p.Leu147ArgfsTer14
NM_198156.3:c.440del NP_937799.1:p.Leu147ArgfsTer14
ENST00000256474.2:c.563del ENSP00000256474.2:p.Leu188ArgfsTer14
ENST00000345392.2:c.440del ENSP00000344757.2:p.Leu147ArgfsTer14
ENST00000477538.1:n.699del
ENST00000696142.1:c.*240del ENSP00000512434.1:n.*240del
ENST00000696143.1:c.699del ENSP00000512435.1:n.699del
ENST00000696153.1:c.674del ENSP00000512444.1:p.Leu225ArgfsTer14
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