Canonical Allele Identifier: CA2695230508

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674930_29674934del , CM000684.2:g.29674930_29674934del	GRCh38
NC_000022.10:g.30070919_30070923del , CM000684.1:g.30070919_30070923del	GRCh37
NC_000022.9:g.28400919_28400923del	NCBI36
NG_009057.1:g.76375_76379del , LRG_511:g.76375_76379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1300_1304del	ENSP00000354529.6:p.Pro434ValfsTer14
ENST00000673312.2:c.*929_*933del	ENSP00000500186.2:n.*929_*933del
ENST00000338641.10:c.1435_1439del MANE Select	ENSP00000344666.5:p.Pro479ValfsTer14
ENST00000361166.9:c.853_857del	ENSP00000354529.5:p.Pro285ValfsTer14
ENST00000672461.1:c.1435_1439del	ENSP00000500919.1:p.Pro479ValfsTer14
ENST00000672805.1:c.*1317_*1321del	ENSP00000500295.1:n.*1317_*1321del
ENST00000672896.1:c.1435_1439del	ENSP00000500117.1:p.Pro479ValfsTer14
ENST00000673312.1:c.1454_1458del	ENSP00000500186.1:n.1454_1458del
ENST00000334961.11:c.1186_1190del	ENSP00000335652.7:p.Pro396ValfsTer14
ENST00000338641.8:c.1435_1439del	ENSP00000344666.4:p.Pro479ValfsTer14
ENST00000353887.8:c.1186_1190del	ENSP00000340626.4:p.Pro396ValfsTer14
ENST00000361166.8:c.1435_1439del	ENSP00000354529.4:p.Pro479ValfsTer14
ENST00000361452.8:c.1312_1316del	ENSP00000354897.4:p.Pro438ValfsTer14
ENST00000361676.8:c.1309_1313del	ENSP00000355183.4:p.Pro437ValfsTer14
ENST00000397789.3:c.1435_1439del	ENSP00000380891.3:p.Pro479ValfsTer14
ENST00000403435.5:c.1348_1352del	ENSP00000384029.1:p.Pro450ValfsTer14
ENST00000403999.7:c.1435_1439del	ENSP00000384797.3:p.Pro479ValfsTer14
ENST00000413209.6:c.448-19822_448-19818del	ENSP00000409921.2:n.448-19822_448-19818del
ENST00000432151.5:c.617_621del	ENSP00000395885.1:p.Ala206GlyfsTer5
NM_000268.3:c.1435_1439del , LRG_511t1:c.1435_1439del	NP_000259.1:p.Pro479ValfsTer14
NM_016418.5:c.1435_1439del , LRG_511t2:c.1435_1439del	NP_057502.2:p.Pro479ValfsTer14
NM_181825.2:c.1435_1439del	NP_861546.1:p.Pro479ValfsTer14
NM_181828.2:c.1309_1313del	NP_861966.1:p.Pro437ValfsTer14
NM_181829.2:c.1312_1316del	NP_861967.1:p.Pro438ValfsTer14
NM_181830.2:c.1186_1190del	NP_861968.1:p.Pro396ValfsTer14
NM_181831.2:c.1186_1190del	NP_861969.1:p.Pro396ValfsTer14
NM_181832.2:c.1435_1439del	NP_861970.1:p.Pro479ValfsTer14
NM_181833.2:c.448-19822_448-19818del	NP_861971.1:n.448-19822_448-19818del
NR_156186.1:n.1994_1998del
XM_017028809.2:c.1321_1325del	XP_016884298.1:p.Pro441ValfsTer14
XM_017028810.1:c.1321_1325del	XP_016884299.1:p.Pro441ValfsTer14
NM_000268.4:c.1435_1439del MANE Select	NP_000259.1:p.Pro479ValfsTer14
NM_181825.3:c.1435_1439del	NP_861546.1:p.Pro479ValfsTer14
NM_181828.3:c.1309_1313del	NP_861966.1:p.Pro437ValfsTer14
NM_181829.3:c.1312_1316del	NP_861967.1:p.Pro438ValfsTer14
NM_181830.3:c.1186_1190del	NP_861968.1:p.Pro396ValfsTer14
NM_181831.3:c.1186_1190del	NP_861969.1:p.Pro396ValfsTer14
NM_181832.3:c.1435_1439del	NP_861970.1:p.Pro479ValfsTer14
NR_156186.2:n.1917_1921del
NM_181833.3:c.448-19822_448-19818del	NP_861971.1:n.448-19822_448-19818del