Canonical Allele Identifier: CA2850447111
Community Standard Title: NM_000551.4(VHL):c.1_340dup (p.Gly114AspfsTer26)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141848_10142187dup , CM000665.2:g.10141848_10142187dup GRCh38
NC_000003.11:g.10183532_10183871dup , CM000665.1:g.10183532_10183871dup GRCh37
NC_000003.10:g.10158532_10158871dup NCBI36
NG_008212.3:g.5214_5553dup , LRG_322:g.5214_5553dup

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.1_340dup MANE Select NP_000542.1:p.Gly114AspfsTer26
ENST00000256474.3:c.1_340dup MANE Select ENSP00000256474.3:p.Gly114AspfsTer26
NM_000551.3:c.1_340dup , LRG_322t1:c.1_340dup NP_000542.1:p.Gly114AspfsTer26
NM_001354723.1:c.1_340dup NP_001341652.1:p.Val114AspfsTer26
NM_001354723.2:c.1_340dup NP_001341652.1:p.Val114AspfsTer26
NM_198156.2:c.1_340dup NP_937799.1:p.Val114AspfsTer26
NM_198156.3:c.1_340dup NP_937799.1:p.Val114AspfsTer26
ENST00000256474.2:c.1_340dup ENSP00000256474.2:p.Gly114AspfsTer26
ENST00000345392.2:c.1_340dup ENSP00000344757.2:p.Val114AspfsTer26
ENST00000696142.1:c.1_340dup ENSP00000512434.1:p.Val114AspfsTer26
ENST00000696143.1:c.1_340dup ENSP00000512435.1:p.Val114AspfsTer26
ENST00000696153.1:c.1_340dup ENSP00000512444.1:p.Gly114AspfsTer26
XM_011534078.1:c.1_340dup XP_011532380.1:p.Val114AspfsTer26
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