Canonical Allele Identifier: CA2499216391
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 1070973
ClinVar RCV Id: RCV001383309
dbSNP Id: rs2125130543
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149827_10149842del , CM000665.2:g.10149827_10149842del GRCh38
NC_000003.11:g.10191511_10191526del , CM000665.1:g.10191511_10191526del GRCh37
NC_000003.10:g.10166511_10166526del NCBI36
NG_008212.3:g.13193_13208del , LRG_322:g.13193_13208del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*181_*196del ENSP00000512434.1:n.*181_*196del
ENST00000696143.1:c.640_655del ENSP00000512435.1:n.640_655del
ENST00000696153.1:c.615_630del ENSP00000512444.1:p.Ser205ArgfsTer29
ENST00000256474.3:c.504_519del MANE Select ENSP00000256474.3:p.Ser168ArgfsTer29
ENST00000256474.2:c.504_519del ENSP00000256474.2:p.Ser168ArgfsTer29
ENST00000345392.2:c.381_396del ENSP00000344757.2:p.Ser127ArgfsTer29
ENST00000477538.1:n.640_655del
NM_000551.3:c.504_519del , LRG_322t1:c.504_519del NP_000542.1:p.Ser168ArgfsTer29
NM_198156.2:c.381_396del NP_937799.1:p.Ser127ArgfsTer29
NM_001354723.1:c.*58_*73del NP_001341652.1:n.*58_*73del
NM_000551.4:c.504_519del MANE Select NP_000542.1:p.Ser168ArgfsTer29
NM_001354723.2:c.*58_*73del NP_001341652.1:n.*58_*73del
NM_198156.3:c.381_396del NP_937799.1:p.Ser127ArgfsTer29
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