Canonical Allele Identifier: CA1139532354

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678252del , CM000684.2:g.29678252del	GRCh38
NC_000022.10:g.30074241del , CM000684.1:g.30074241del	GRCh37
NC_000022.9:g.28404241del	NCBI36
NG_009057.1:g.79697del , LRG_511:g.79697del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1368del	ENSP00000354529.6:p.Ile456MetfsTer14
ENST00000673312.2:c.*997del	ENSP00000500186.2:n.*997del
ENST00000338641.10:c.1503del MANE Select	ENSP00000344666.5:p.Ile501MetfsTer14
ENST00000361166.9:c.921del	ENSP00000354529.5:p.Ile307MetfsTer14
ENST00000672461.1:c.1503del	ENSP00000500919.1:p.Ile501MetfsTer14
ENST00000672805.1:c.*1385del	ENSP00000500295.1:n.*1385del
ENST00000672896.1:c.1503del	ENSP00000500117.1:p.Ile501MetfsTer14
ENST00000673312.1:c.1522del	ENSP00000500186.1:n.1522del
ENST00000334961.11:c.1254del	ENSP00000335652.7:p.Ile418MetfsTer14
ENST00000338641.8:c.1503del	ENSP00000344666.4:p.Ile501MetfsTer14
ENST00000353887.8:c.1254del	ENSP00000340626.4:p.Ile418MetfsTer14
ENST00000361166.8:c.1503del	ENSP00000354529.4:p.Ile501MetfsTer14
ENST00000361452.8:c.1380del	ENSP00000354897.4:p.Ile460MetfsTer14
ENST00000361676.8:c.1377del	ENSP00000355183.4:p.Ile459MetfsTer14
ENST00000397789.3:c.1503del	ENSP00000380891.3:p.Ile501MetfsTer14
ENST00000403435.5:c.1416del	ENSP00000384029.1:p.Ile472MetfsTer14
ENST00000403999.7:c.1503del	ENSP00000384797.3:p.Ile501MetfsTer14
ENST00000413209.6:c.448-16500del	ENSP00000409921.2:n.448-16500del
ENST00000432151.5:c.*22del	ENSP00000395885.1:n.*22del
NM_000268.3:c.1503del , LRG_511t1:c.1503del	NP_000259.1:p.Ile501MetfsTer14
NM_016418.5:c.1503del , LRG_511t2:c.1503del	NP_057502.2:p.Ile501MetfsTer14
NM_181825.2:c.1503del	NP_861546.1:p.Ile501MetfsTer14
NM_181828.2:c.1377del	NP_861966.1:p.Ile459MetfsTer14
NM_181829.2:c.1380del	NP_861967.1:p.Ile460MetfsTer14
NM_181830.2:c.1254del	NP_861968.1:p.Ile418MetfsTer14
NM_181831.2:c.1254del	NP_861969.1:p.Ile418MetfsTer14
NM_181832.2:c.1503del	NP_861970.1:p.Ile501MetfsTer14
NM_181833.2:c.448-16500del	NP_861971.1:n.448-16500del
NR_156186.1:n.2062del
XM_017028809.2:c.1389del	XP_016884298.1:p.Ile463MetfsTer14
XM_017028810.1:c.1389del	XP_016884299.1:p.Ile463MetfsTer14
NM_000268.4:c.1503del MANE Select	NP_000259.1:p.Ile501MetfsTer14
NM_181825.3:c.1503del	NP_861546.1:p.Ile501MetfsTer14
NM_181828.3:c.1377del	NP_861966.1:p.Ile459MetfsTer14
NM_181829.3:c.1380del	NP_861967.1:p.Ile460MetfsTer14
NM_181830.3:c.1254del	NP_861968.1:p.Ile418MetfsTer14
NM_181831.3:c.1254del	NP_861969.1:p.Ile418MetfsTer14
NM_181832.3:c.1503del	NP_861970.1:p.Ile501MetfsTer14
NR_156186.2:n.1985del
NM_181833.3:c.448-16500del	NP_861971.1:n.448-16500del