Canonical Allele Identifier: CA16617784
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 423409
ClinVar RCV Id: RCV000479186 RCV000803035
dbSNP Id: rs1064796408
MyVariant Identifiers: chr3:g.10183710_10183723del (hg19) chr3:g.10142026_10142039del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142026_10142039del , CM000665.2:g.10142026_10142039del GRCh38
NC_000003.11:g.10183710_10183723del , CM000665.1:g.10183710_10183723del GRCh37
NC_000003.10:g.10158710_10158723del NCBI36
NG_008212.3:g.5392_5405del , LRG_322:g.5392_5405del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.179_192del ENSP00000512434.1:p.Arg60LeufsTer?
ENST00000696143.1:c.179_192del ENSP00000512435.1:p.Arg60LeufsTer?
ENST00000696153.1:c.179_192del ENSP00000512444.1:p.Arg60LeufsTer?
ENST00000256474.3:c.179_192del MANE Select ENSP00000256474.3:p.Arg60LeufsTer?
ENST00000256474.2:c.179_192del ENSP00000256474.2:p.Arg60LeufsTer?
ENST00000345392.2:c.179_192del ENSP00000344757.2:p.Arg60LeufsTer?
NM_000551.3:c.179_192del , LRG_322t1:c.179_192del NP_000542.1:p.Arg60LeufsTer?
NM_198156.2:c.179_192del NP_937799.1:p.Arg60LeufsTer?
XM_011534078.1:c.179_192del XP_011532380.1:p.Arg60LeufsTer?
NM_001354723.1:c.179_192del NP_001341652.1:p.Arg60LeufsTer?
NM_000551.4:c.179_192del MANE Select NP_000542.1:p.Arg60LeufsTer?
NM_001354723.2:c.179_192del NP_001341652.1:p.Arg60LeufsTer?
NM_198156.3:c.179_192del NP_937799.1:p.Arg60LeufsTer?
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