Canonical Allele Identifier: CA3266346890
Community Standard Title: NM_000551.4(VHL):c.242_337del (p.Pro81_Tyr112del)
Gene: VHL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142089_10142184del , CM000665.2:g.10142089_10142184del GRCh38
NC_000003.11:g.10183773_10183868del , CM000665.1:g.10183773_10183868del GRCh37
NC_000003.10:g.10158773_10158868del NCBI36
NG_008212.3:g.5455_5550del , LRG_322:g.5455_5550del

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.242_337del MANE Select NP_000542.1:p.Pro81_Tyr112del
ENST00000256474.3:c.242_337del MANE Select ENSP00000256474.3:p.Pro81_Tyr112del
NM_000551.3:c.242_337del , LRG_322t1:c.242_337del NP_000542.1:p.Pro81_Tyr112del
NM_001354723.1:c.242_337del NP_001341652.1:p.Pro81_Tyr112del
NM_001354723.2:c.242_337del NP_001341652.1:p.Pro81_Tyr112del
NM_198156.2:c.242_337del NP_937799.1:p.Pro81_Tyr112del
NM_198156.3:c.242_337del NP_937799.1:p.Pro81_Tyr112del
ENST00000256474.2:c.242_337del ENSP00000256474.2:p.Pro81_Tyr112del
ENST00000345392.2:c.242_337del ENSP00000344757.2:p.Pro81_Tyr112del
ENST00000696142.1:c.242_337del ENSP00000512434.1:p.Pro81_Tyr112del
ENST00000696143.1:c.242_337del ENSP00000512435.1:p.Pro81_Tyr112del
ENST00000696153.1:c.242_337del ENSP00000512444.1:p.Pro81_Tyr112del
XM_011534078.1:c.242_337del XP_011532380.1:p.Pro81_Tyr112del
Search 100 bp 5'
Search 100 bp 3'