Canonical Allele Identifier: CA645601090
Gene: NF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29668388_29668395del , CM000684.2:g.29668388_29668395del GRCh38
NC_000022.10:g.30064377_30064384del , CM000684.1:g.30064377_30064384del GRCh37
NC_000022.9:g.28394377_28394384del NCBI36
NG_009057.1:g.69833_69840del , LRG_511:g.69833_69840del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.806_813del ENSP00000354529.6:p.Asp269GlyfsTer15
ENST00000673312.2:c.*435_*442del ENSP00000500186.2:n.*435_*442del
ENST00000338641.10:c.941_948del MANE Select ENSP00000344666.5:p.Asp314GlyfsTer15
ENST00000361166.9:c.359_366del ENSP00000354529.5:p.Asp120GlyfsTer15
ENST00000672461.1:c.941_948del ENSP00000500919.1:p.Asp314GlyfsTer15
ENST00000672805.1:c.*823_*830del ENSP00000500295.1:n.*823_*830del
ENST00000672896.1:c.941_948del ENSP00000500117.1:p.Asp314GlyfsTer15
ENST00000673312.1:c.960_967del ENSP00000500186.1:n.960_967del
ENST00000334961.11:c.692_699del ENSP00000335652.7:p.Asp231GlyfsTer15
ENST00000338641.8:c.941_948del ENSP00000344666.4:p.Asp314GlyfsTer15
ENST00000353887.8:c.692_699del ENSP00000340626.4:p.Asp231GlyfsTer15
ENST00000361166.8:c.941_948del ENSP00000354529.4:p.Asp314GlyfsTer15
ENST00000361452.8:c.818_825del ENSP00000354897.4:p.Asp273GlyfsTer15
ENST00000361676.8:c.815_822del ENSP00000355183.4:p.Asp272GlyfsTer15
ENST00000397789.3:c.941_948del ENSP00000380891.3:p.Asp314GlyfsTer15
ENST00000403435.5:c.941_948del ENSP00000384029.1:p.Asp314GlyfsTer15
ENST00000403999.7:c.941_948del ENSP00000384797.3:p.Asp314GlyfsTer15
ENST00000413209.6:c.447+26103_447+26110del ENSP00000409921.2:n.447+26103_447+26110del
ENST00000432151.5:c.464_471del ENSP00000395885.1:p.Asp155GlyfsTer15
NM_000268.3:c.941_948del , LRG_511t1:c.941_948del NP_000259.1:p.Asp314GlyfsTer15
NM_016418.5:c.941_948del , LRG_511t2:c.941_948del NP_057502.2:p.Asp314GlyfsTer15
NM_181825.2:c.941_948del NP_861546.1:p.Asp314GlyfsTer15
NM_181828.2:c.815_822del NP_861966.1:p.Asp272GlyfsTer15
NM_181829.2:c.818_825del NP_861967.1:p.Asp273GlyfsTer15
NM_181830.2:c.692_699del NP_861968.1:p.Asp231GlyfsTer15
NM_181831.2:c.692_699del NP_861969.1:p.Asp231GlyfsTer15
NM_181832.2:c.941_948del NP_861970.1:p.Asp314GlyfsTer15
NM_181833.2:c.447+26103_447+26110del NP_861971.1:n.447+26103_447+26110del
NR_156186.1:n.1500_1507del
XM_017028809.2:c.827_834del XP_016884298.1:p.Asp276GlyfsTer15
XM_017028810.1:c.827_834del XP_016884299.1:p.Asp276GlyfsTer15
NM_000268.4:c.941_948del MANE Select NP_000259.1:p.Asp314GlyfsTer15
NM_181825.3:c.941_948del NP_861546.1:p.Asp314GlyfsTer15
NM_181828.3:c.815_822del NP_861966.1:p.Asp272GlyfsTer15
NM_181829.3:c.818_825del NP_861967.1:p.Asp273GlyfsTer15
NM_181830.3:c.692_699del NP_861968.1:p.Asp231GlyfsTer15
NM_181831.3:c.692_699del NP_861969.1:p.Asp231GlyfsTer15
NM_181832.3:c.941_948del NP_861970.1:p.Asp314GlyfsTer15
NR_156186.2:n.1423_1430del
NM_181833.3:c.447+26103_447+26110del NP_861971.1:n.447+26103_447+26110del