Canonical Allele Identifier: CA645525071
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM18401
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149820_10149824del , CM000665.2:g.10149820_10149824del GRCh38
NC_000003.11:g.10191504_10191508del , CM000665.1:g.10191504_10191508del GRCh37
NC_000003.10:g.10166504_10166508del NCBI36
NG_008212.3:g.13186_13190del , LRG_322:g.13186_13190del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*174_*178del ENSP00000512434.1:n.*174_*178del
ENST00000696143.1:c.633_637del ENSP00000512435.1:n.633_637del
ENST00000696153.1:c.608_612del ENSP00000512444.1:p.Val203GlufsTer6
ENST00000256474.3:c.497_501del MANE Select ENSP00000256474.3:p.Val166GlufsTer6
ENST00000256474.2:c.497_501del ENSP00000256474.2:p.Val166GlufsTer6
ENST00000345392.2:c.374_378del ENSP00000344757.2:p.Val125GlufsTer6
ENST00000477538.1:n.633_637del
NM_000551.3:c.497_501del , LRG_322t1:c.497_501del NP_000542.1:p.Val166GlufsTer6
NM_198156.2:c.374_378del NP_937799.1:p.Val125GlufsTer6
NM_001354723.1:c.*51_*55del NP_001341652.1:n.*51_*55del
NM_000551.4:c.497_501del MANE Select NP_000542.1:p.Val166GlufsTer6
NM_001354723.2:c.*51_*55del NP_001341652.1:n.*51_*55del
NM_198156.3:c.374_378del NP_937799.1:p.Val125GlufsTer6
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