Canonical Allele Identifier: CA2695230497

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29673283_29673284del , CM000684.2:g.29673283_29673284del	GRCh38
NC_000022.10:g.30069272_30069273del , CM000684.1:g.30069272_30069273del	GRCh37
NC_000022.9:g.28399272_28399273del	NCBI36
NG_009057.1:g.74728_74729del , LRG_511:g.74728_74729del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1002_1003del	ENSP00000354529.6:p.Glu334AspfsTer3
ENST00000673312.2:c.*631_*632del	ENSP00000500186.2:n.*631_*632del
ENST00000338641.10:c.1137_1138del MANE Select	ENSP00000344666.5:p.Glu379AspfsTer3
ENST00000361166.9:c.555_556del	ENSP00000354529.5:p.Glu185AspfsTer3
ENST00000672461.1:c.1137_1138del	ENSP00000500919.1:p.Glu379AspfsTer3
ENST00000672805.1:c.*1019_*1020del	ENSP00000500295.1:n.*1019_*1020del
ENST00000672896.1:c.1137_1138del	ENSP00000500117.1:p.Glu379AspfsTer3
ENST00000673312.1:c.1156_1157del	ENSP00000500186.1:n.1156_1157del
ENST00000334961.11:c.888_889del	ENSP00000335652.7:p.Glu296AspfsTer3
ENST00000338641.8:c.1137_1138del	ENSP00000344666.4:p.Glu379AspfsTer3
ENST00000353887.8:c.888_889del	ENSP00000340626.4:p.Glu296AspfsTer3
ENST00000361166.8:c.1137_1138del	ENSP00000354529.4:p.Glu379AspfsTer3
ENST00000361452.8:c.1014_1015del	ENSP00000354897.4:p.Glu338AspfsTer3
ENST00000361676.8:c.1011_1012del	ENSP00000355183.4:p.Glu337AspfsTer3
ENST00000397789.3:c.1137_1138del	ENSP00000380891.3:p.Glu379AspfsTer3
ENST00000403435.5:c.1050_1051del	ENSP00000384029.1:p.Glu350AspfsTer3
ENST00000403999.7:c.1137_1138del	ENSP00000384797.3:p.Glu379AspfsTer3
ENST00000413209.6:c.448-21469_448-21468del	ENSP00000409921.2:n.448-21469_448-21468de...
ENST00000432151.5:c.523-1553_523-1552del	ENSP00000395885.1:n.523-1553_523-1552del
NM_000268.3:c.1137_1138del , LRG_511t1:c.1137_1138del	NP_000259.1:p.Glu379AspfsTer3
NM_016418.5:c.1137_1138del , LRG_511t2:c.1137_1138del	NP_057502.2:p.Glu379AspfsTer3
NM_181825.2:c.1137_1138del	NP_861546.1:p.Glu379AspfsTer3
NM_181828.2:c.1011_1012del	NP_861966.1:p.Glu337AspfsTer3
NM_181829.2:c.1014_1015del	NP_861967.1:p.Glu338AspfsTer3
NM_181830.2:c.888_889del	NP_861968.1:p.Glu296AspfsTer3
NM_181831.2:c.888_889del	NP_861969.1:p.Glu296AspfsTer3
NM_181832.2:c.1137_1138del	NP_861970.1:p.Glu379AspfsTer3
NM_181833.2:c.448-21469_448-21468del	NP_861971.1:n.448-21469_448-21468del
NR_156186.1:n.1696_1697del
XM_017028809.2:c.1023_1024del	XP_016884298.1:p.Glu341AspfsTer3
XM_017028810.1:c.1023_1024del	XP_016884299.1:p.Glu341AspfsTer3
NM_000268.4:c.1137_1138del MANE Select	NP_000259.1:p.Glu379AspfsTer3
NM_181825.3:c.1137_1138del	NP_861546.1:p.Glu379AspfsTer3
NM_181828.3:c.1011_1012del	NP_861966.1:p.Glu337AspfsTer3
NM_181829.3:c.1014_1015del	NP_861967.1:p.Glu338AspfsTer3
NM_181830.3:c.888_889del	NP_861968.1:p.Glu296AspfsTer3
NM_181831.3:c.888_889del	NP_861969.1:p.Glu296AspfsTer3
NM_181832.3:c.1137_1138del	NP_861970.1:p.Glu379AspfsTer3
NR_156186.2:n.1619_1620del
NM_181833.3:c.448-21469_448-21468del	NP_861971.1:n.448-21469_448-21468del