Canonical Allele Identifier: CA645601170

Gene: NF2

Linked Data

• COSMIC: COSM307503

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674902_29674912del , CM000684.2:g.29674902_29674912del	GRCh38
NC_000022.10:g.30070891_30070901del , CM000684.1:g.30070891_30070901del	GRCh37
NC_000022.9:g.28400891_28400901del	NCBI36
NG_009057.1:g.76347_76357del , LRG_511:g.76347_76357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1272_1282del	ENSP00000354529.6:p.Lys424AsnfsTer22
ENST00000673312.2:c.*901_*911del	ENSP00000500186.2:n.*901_*911del
ENST00000338641.10:c.1407_1417del MANE Select	ENSP00000344666.5:p.Lys469AsnfsTer22
ENST00000361166.9:c.825_835del	ENSP00000354529.5:p.Lys275AsnfsTer22
ENST00000672461.1:c.1407_1417del	ENSP00000500919.1:p.Lys469AsnfsTer22
ENST00000672805.1:c.*1289_*1299del	ENSP00000500295.1:n.*1289_*1299del
ENST00000672896.1:c.1407_1417del	ENSP00000500117.1:p.Lys469AsnfsTer22
ENST00000673312.1:c.1426_1436del	ENSP00000500186.1:n.1426_1436del
ENST00000334961.11:c.1158_1168del	ENSP00000335652.7:p.Lys386AsnfsTer22
ENST00000338641.8:c.1407_1417del	ENSP00000344666.4:p.Lys469AsnfsTer22
ENST00000353887.8:c.1158_1168del	ENSP00000340626.4:p.Lys386AsnfsTer22
ENST00000361166.8:c.1407_1417del	ENSP00000354529.4:p.Lys469AsnfsTer22
ENST00000361452.8:c.1284_1294del	ENSP00000354897.4:p.Lys428AsnfsTer22
ENST00000361676.8:c.1281_1291del	ENSP00000355183.4:p.Lys427AsnfsTer22
ENST00000397789.3:c.1407_1417del	ENSP00000380891.3:p.Lys469AsnfsTer22
ENST00000403435.5:c.1320_1330del	ENSP00000384029.1:p.Lys440AsnfsTer22
ENST00000403999.7:c.1407_1417del	ENSP00000384797.3:p.Lys469AsnfsTer22
ENST00000413209.6:c.448-19850_448-19840del	ENSP00000409921.2:n.448-19850_448-19840del
ENST00000432151.5:c.589_599del	ENSP00000395885.1:p.Ala197TrpfsTer12
NM_000268.3:c.1407_1417del , LRG_511t1:c.1407_1417del	NP_000259.1:p.Lys469AsnfsTer22
NM_016418.5:c.1407_1417del , LRG_511t2:c.1407_1417del	NP_057502.2:p.Lys469AsnfsTer22
NM_181825.2:c.1407_1417del	NP_861546.1:p.Lys469AsnfsTer22
NM_181828.2:c.1281_1291del	NP_861966.1:p.Lys427AsnfsTer22
NM_181829.2:c.1284_1294del	NP_861967.1:p.Lys428AsnfsTer22
NM_181830.2:c.1158_1168del	NP_861968.1:p.Lys386AsnfsTer22
NM_181831.2:c.1158_1168del	NP_861969.1:p.Lys386AsnfsTer22
NM_181832.2:c.1407_1417del	NP_861970.1:p.Lys469AsnfsTer22
NM_181833.2:c.448-19850_448-19840del	NP_861971.1:n.448-19850_448-19840del
NR_156186.1:n.1966_1976del
XM_017028809.2:c.1293_1303del	XP_016884298.1:p.Lys431AsnfsTer22
XM_017028810.1:c.1293_1303del	XP_016884299.1:p.Lys431AsnfsTer22
NM_000268.4:c.1407_1417del MANE Select	NP_000259.1:p.Lys469AsnfsTer22
NM_181825.3:c.1407_1417del	NP_861546.1:p.Lys469AsnfsTer22
NM_181828.3:c.1281_1291del	NP_861966.1:p.Lys427AsnfsTer22
NM_181829.3:c.1284_1294del	NP_861967.1:p.Lys428AsnfsTer22
NM_181830.3:c.1158_1168del	NP_861968.1:p.Lys386AsnfsTer22
NM_181831.3:c.1158_1168del	NP_861969.1:p.Lys386AsnfsTer22
NM_181832.3:c.1407_1417del	NP_861970.1:p.Lys469AsnfsTer22
NR_156186.2:n.1889_1899del
NM_181833.3:c.448-19850_448-19840del	NP_861971.1:n.448-19850_448-19840del