Canonical Allele Identifier: CA432423729
Community Standard Title: NM_000551.4(VHL):c.575del (p.Pro192GlnfsTer10)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149898del , CM000665.2:g.10149898del GRCh38
NC_000003.11:g.10191582del , CM000665.1:g.10191582del GRCh37
NC_000003.10:g.10166582del NCBI36
NG_008212.3:g.13264del , LRG_322:g.13264del

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.575del MANE Select NP_000542.1:p.Pro192GlnfsTer10
ENST00000256474.3:c.575del MANE Select ENSP00000256474.3:p.Pro192GlnfsTer10
NM_000551.3:c.575del , LRG_322t1:c.575del NP_000542.1:p.Pro192GlnfsTer10
NM_001354723.1:c.*129del NP_001341652.1:n.*129del
NM_001354723.2:c.*129del NP_001341652.1:n.*129del
NM_198156.2:c.452del NP_937799.1:p.Pro151GlnfsTer10
NM_198156.3:c.452del NP_937799.1:p.Pro151GlnfsTer10
ENST00000256474.2:c.575del ENSP00000256474.2:p.Pro192GlnfsTer10
ENST00000345392.2:c.452del ENSP00000344757.2:p.Pro151GlnfsTer10
ENST00000477538.1:n.711del
ENST00000696142.1:c.*252del ENSP00000512434.1:n.*252del
ENST00000696143.1:c.711del ENSP00000512435.1:n.711del
ENST00000696153.1:c.686del ENSP00000512444.1:p.Pro229GlnfsTer10
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