Canonical Allele Identifier: CA915940704

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673321_29673342del , CM000684.2:g.29673321_29673342del	GRCh38
NC_000022.10:g.30069310_30069331del , CM000684.1:g.30069310_30069331del	GRCh37
NC_000022.9:g.28399310_28399331del	NCBI36
NG_009057.1:g.74766_74787del , LRG_511:g.74766_74787del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1040_1061del	ENSP00000354529.6:p.Glu347AlafsTer27
ENST00000673312.2:c.*669_*690del	ENSP00000500186.2:n.*669_*690del
ENST00000338641.10:c.1175_1196del MANE Select	ENSP00000344666.5:p.Glu392AlafsTer27
ENST00000361166.9:c.593_614del	ENSP00000354529.5:p.Glu198AlafsTer27
ENST00000672461.1:c.1175_1196del	ENSP00000500919.1:p.Glu392AlafsTer27
ENST00000672805.1:c.*1057_*1078del	ENSP00000500295.1:n.*1057_*1078del
ENST00000672896.1:c.1175_1196del	ENSP00000500117.1:p.Glu392AlafsTer27
ENST00000673312.1:c.1194_1215del	ENSP00000500186.1:n.1194_1215del
ENST00000334961.11:c.926_947del	ENSP00000335652.7:p.Glu309AlafsTer27
ENST00000338641.8:c.1175_1196del	ENSP00000344666.4:p.Glu392AlafsTer27
ENST00000353887.8:c.926_947del	ENSP00000340626.4:p.Glu309AlafsTer27
ENST00000361166.8:c.1175_1196del	ENSP00000354529.4:p.Glu392AlafsTer27
ENST00000361452.8:c.1052_1073del	ENSP00000354897.4:p.Glu351AlafsTer27
ENST00000361676.8:c.1049_1070del	ENSP00000355183.4:p.Glu350AlafsTer27
ENST00000397789.3:c.1175_1196del	ENSP00000380891.3:p.Glu392AlafsTer27
ENST00000403435.5:c.1088_1109del	ENSP00000384029.1:p.Glu363AlafsTer27
ENST00000403999.7:c.1175_1196del	ENSP00000384797.3:p.Glu392AlafsTer27
ENST00000413209.6:c.448-21431_448-21410del	ENSP00000409921.2:n.448-21431_448-21410de...
ENST00000432151.5:c.523-1515_523-1494del	ENSP00000395885.1:n.523-1515_523-1494del
NM_000268.3:c.1175_1196del , LRG_511t1:c.1175_1196del	NP_000259.1:p.Glu392AlafsTer27
NM_016418.5:c.1175_1196del , LRG_511t2:c.1175_1196del	NP_057502.2:p.Glu392AlafsTer27
NM_181825.2:c.1175_1196del	NP_861546.1:p.Glu392AlafsTer27
NM_181828.2:c.1049_1070del	NP_861966.1:p.Glu350AlafsTer27
NM_181829.2:c.1052_1073del	NP_861967.1:p.Glu351AlafsTer27
NM_181830.2:c.926_947del	NP_861968.1:p.Glu309AlafsTer27
NM_181831.2:c.926_947del	NP_861969.1:p.Glu309AlafsTer27
NM_181832.2:c.1175_1196del	NP_861970.1:p.Glu392AlafsTer27
NM_181833.2:c.448-21431_448-21410del	NP_861971.1:n.448-21431_448-21410del
NR_156186.1:n.1734_1755del
XM_017028809.2:c.1061_1082del	XP_016884298.1:p.Glu354AlafsTer27
XM_017028810.1:c.1061_1082del	XP_016884299.1:p.Glu354AlafsTer27
NM_000268.4:c.1175_1196del MANE Select	NP_000259.1:p.Glu392AlafsTer27
NM_181825.3:c.1175_1196del	NP_861546.1:p.Glu392AlafsTer27
NM_181828.3:c.1049_1070del	NP_861966.1:p.Glu350AlafsTer27
NM_181829.3:c.1052_1073del	NP_861967.1:p.Glu351AlafsTer27
NM_181830.3:c.926_947del	NP_861968.1:p.Glu309AlafsTer27
NM_181831.3:c.926_947del	NP_861969.1:p.Glu309AlafsTer27
NM_181832.3:c.1175_1196del	NP_861970.1:p.Glu392AlafsTer27
NR_156186.2:n.1657_1678del
NM_181833.3:c.448-21431_448-21410del	NP_861971.1:n.448-21431_448-21410del