Canonical Allele Identifier: CA16611078
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 411961
ClinVar RCV Id: RCV000462489 RCV002446840
dbSNP Id: rs1060503552
MyVariant Identifiers: chr3:g.10183757_10183758del (hg19) chr3:g.10142073_10142074del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142073_10142074del , CM000665.2:g.10142073_10142074del GRCh38
NC_000003.11:g.10183757_10183758del , CM000665.1:g.10183757_10183758del GRCh37
NC_000003.10:g.10158757_10158758del NCBI36
NG_008212.3:g.5439_5440del , LRG_322:g.5439_5440del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.226_227del ENSP00000512434.1:p.Phe76LeufsTer?
ENST00000696143.1:c.226_227del ENSP00000512435.1:p.Phe76LeufsTer?
ENST00000696153.1:c.226_227del ENSP00000512444.1:p.Phe76LeufsTer?
ENST00000256474.3:c.226_227del MANE Select ENSP00000256474.3:p.Phe76LeufsTer?
ENST00000256474.2:c.226_227del ENSP00000256474.2:p.Phe76LeufsTer?
ENST00000345392.2:c.226_227del ENSP00000344757.2:p.Phe76LeufsTer?
NM_000551.3:c.226_227del , LRG_322t1:c.226_227del NP_000542.1:p.Phe76LeufsTer?
NM_198156.2:c.226_227del NP_937799.1:p.Phe76LeufsTer?
XM_011534078.1:c.226_227del XP_011532380.1:p.Phe76LeufsTer?
NM_001354723.1:c.226_227del NP_001341652.1:p.Phe76LeufsTer?
NM_000551.4:c.226_227del MANE Select NP_000542.1:p.Phe76LeufsTer?
NM_001354723.2:c.226_227del NP_001341652.1:p.Phe76LeufsTer?
NM_198156.3:c.226_227del NP_937799.1:p.Phe76LeufsTer?
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