Canonical Allele Identifier: CA3266346889
Community Standard Title: NM_000551.4(VHL):c.242_334del (p.Pro81_Tyr112delinsHis)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142089_10142181del , CM000665.2:g.10142089_10142181del GRCh38
NC_000003.11:g.10183773_10183865del , CM000665.1:g.10183773_10183865del GRCh37
NC_000003.10:g.10158773_10158865del NCBI36
NG_008212.3:g.5455_5547del , LRG_322:g.5455_5547del

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.242_334del MANE Select NP_000542.1:p.Pro81_Tyr112delinsHis
ENST00000256474.3:c.242_334del MANE Select ENSP00000256474.3:p.Pro81_Tyr112delinsHis
NM_000551.3:c.242_334del , LRG_322t1:c.242_334del NP_000542.1:p.Pro81_Tyr112delinsHis
NM_001354723.1:c.242_334del NP_001341652.1:p.Pro81_Tyr112delinsHis
NM_001354723.2:c.242_334del NP_001341652.1:p.Pro81_Tyr112delinsHis
NM_198156.2:c.242_334del NP_937799.1:p.Pro81_Tyr112delinsHis
NM_198156.3:c.242_334del NP_937799.1:p.Pro81_Tyr112delinsHis
ENST00000256474.2:c.242_334del ENSP00000256474.2:p.Pro81_Tyr112delinsHis
ENST00000345392.2:c.242_334del ENSP00000344757.2:p.Pro81_Tyr112delinsHis
ENST00000696142.1:c.242_334del ENSP00000512434.1:p.Pro81_Tyr112delinsHis
ENST00000696143.1:c.242_334del ENSP00000512435.1:p.Pro81_Tyr112delinsHis
ENST00000696153.1:c.242_334del ENSP00000512444.1:p.Pro81_Tyr112delinsHis
XM_011534078.1:c.242_334del XP_011532380.1:p.Pro81_Tyr112delinsHis
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