Canonical Allele Identifier: CA645525075
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM4770210
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149826_10149832del , CM000665.2:g.10149826_10149832del GRCh38
NC_000003.11:g.10191510_10191516del , CM000665.1:g.10191510_10191516del GRCh37
NC_000003.10:g.10166510_10166516del NCBI36
NG_008212.3:g.13192_13198del , LRG_322:g.13192_13198del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*180_*186del ENSP00000512434.1:n.*180_*186del
ENST00000696143.1:c.639_645del ENSP00000512435.1:n.639_645del
ENST00000696153.1:c.614_620del ENSP00000512444.1:p.Ser205ThrfsTer?
ENST00000256474.3:c.503_509del MANE Select ENSP00000256474.3:p.Ser168ThrfsTer?
ENST00000256474.2:c.503_509del ENSP00000256474.2:p.Ser168ThrfsTer?
ENST00000345392.2:c.380_386del ENSP00000344757.2:p.Ser127ThrfsTer?
ENST00000477538.1:n.639_645del
NM_000551.3:c.503_509del , LRG_322t1:c.503_509del NP_000542.1:p.Ser168ThrfsTer?
NM_198156.2:c.380_386del NP_937799.1:p.Ser127ThrfsTer?
NM_001354723.1:c.*57_*63del NP_001341652.1:n.*57_*63del
NM_000551.4:c.503_509del MANE Select NP_000542.1:p.Ser168ThrfsTer?
NM_001354723.2:c.*57_*63del NP_001341652.1:n.*57_*63del
NM_198156.3:c.380_386del NP_937799.1:p.Ser127ThrfsTer?
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