Canonical Allele Identifier: CA645601160
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM23679

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29674857_29674885del , CM000684.2:g.29674857_29674885del GRCh38
NC_000022.10:g.30070846_30070874del , CM000684.1:g.30070846_30070874del GRCh37
NC_000022.9:g.28400846_28400874del NCBI36
NG_009057.1:g.76302_76330del , LRG_511:g.76302_76330del

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.1227_1255del ENSP00000354529.6:p.Lys410GlyfsTer?
ENST00000673312.2:c.*856_*884del ENSP00000500186.2:n.*856_*884del
ENST00000338641.10:c.1362_1390del MANE Select ENSP00000344666.5:p.Lys455GlyfsTer?
ENST00000361166.9:c.780_808del ENSP00000354529.5:p.Lys261GlyfsTer?
ENST00000672461.1:c.1362_1390del ENSP00000500919.1:p.Lys455GlyfsTer?
ENST00000672805.1:c.*1244_*1272del ENSP00000500295.1:n.*1244_*1272del
ENST00000672896.1:c.1362_1390del ENSP00000500117.1:p.Lys455GlyfsTer?
ENST00000673312.1:c.1381_1409del ENSP00000500186.1:n.1381_1409del
ENST00000334961.11:c.1113_1141del ENSP00000335652.7:p.Lys372GlyfsTer?
ENST00000338641.8:c.1362_1390del ENSP00000344666.4:p.Lys455GlyfsTer?
ENST00000353887.8:c.1113_1141del ENSP00000340626.4:p.Lys372GlyfsTer?
ENST00000361166.8:c.1362_1390del ENSP00000354529.4:p.Lys455GlyfsTer?
ENST00000361452.8:c.1239_1267del ENSP00000354897.4:p.Lys414GlyfsTer?
ENST00000361676.8:c.1236_1264del ENSP00000355183.4:p.Lys413GlyfsTer?
ENST00000397789.3:c.1362_1390del ENSP00000380891.3:p.Lys455GlyfsTer?
ENST00000403435.5:c.1275_1303del ENSP00000384029.1:p.Lys426GlyfsTer?
ENST00000403999.7:c.1362_1390del ENSP00000384797.3:p.Lys455GlyfsTer?
ENST00000413209.6:c.448-19895_448-19867del ENSP00000409921.2:n.448-19895_448-19867de...
ENST00000432151.5:c.544_572del ENSP00000395885.1:p.Glu182ArgfsTer21
NM_000268.3:c.1362_1390del , LRG_511t1:c.1362_1390del NP_000259.1:p.Lys455GlyfsTer?
NM_016418.5:c.1362_1390del , LRG_511t2:c.1362_1390del NP_057502.2:p.Lys455GlyfsTer?
NM_181825.2:c.1362_1390del NP_861546.1:p.Lys455GlyfsTer?
NM_181828.2:c.1236_1264del NP_861966.1:p.Lys413GlyfsTer?
NM_181829.2:c.1239_1267del NP_861967.1:p.Lys414GlyfsTer?
NM_181830.2:c.1113_1141del NP_861968.1:p.Lys372GlyfsTer?
NM_181831.2:c.1113_1141del NP_861969.1:p.Lys372GlyfsTer?
NM_181832.2:c.1362_1390del NP_861970.1:p.Lys455GlyfsTer?
NM_181833.2:c.448-19895_448-19867del NP_861971.1:n.448-19895_448-19867del
NR_156186.1:n.1921_1949del
XM_017028809.2:c.1248_1276del XP_016884298.1:p.Lys417GlyfsTer?
XM_017028810.1:c.1248_1276del XP_016884299.1:p.Lys417GlyfsTer?
NM_000268.4:c.1362_1390del MANE Select NP_000259.1:p.Lys455GlyfsTer?
NM_181825.3:c.1362_1390del NP_861546.1:p.Lys455GlyfsTer?
NM_181828.3:c.1236_1264del NP_861966.1:p.Lys413GlyfsTer?
NM_181829.3:c.1239_1267del NP_861967.1:p.Lys414GlyfsTer?
NM_181830.3:c.1113_1141del NP_861968.1:p.Lys372GlyfsTer?
NM_181831.3:c.1113_1141del NP_861969.1:p.Lys372GlyfsTer?
NM_181832.3:c.1362_1390del NP_861970.1:p.Lys455GlyfsTer?
NR_156186.2:n.1844_1872del
NM_181833.3:c.448-19895_448-19867del NP_861971.1:n.448-19895_448-19867del