Canonical Allele Identifier: CA645601188

Gene: NF2

Linked Data

• COSMIC: COSM24366

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29678196_29678320del , CM000684.2:g.29678196_29678320del	GRCh38
NC_000022.10:g.30074185_30074309del , CM000684.1:g.30074185_30074309del	GRCh37
NC_000022.9:g.28404185_28404309del	NCBI36
NG_009057.1:g.79641_79765del , LRG_511:g.79641_79765del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1312_1436del	ENSP00000354529.6:p.Pro438LysfsTer17
ENST00000673312.2:c.*941_*1065del	ENSP00000500186.2:n.*941_*1065del
ENST00000338641.10:c.1447_1571del MANE Select	ENSP00000344666.5:p.Pro483LysfsTer17
ENST00000361166.9:c.865_989del	ENSP00000354529.5:p.Pro289LysfsTer17
ENST00000672461.1:c.1447_1571del	ENSP00000500919.1:p.Pro483LysfsTer17
ENST00000672805.1:c.*1329_*1453del	ENSP00000500295.1:n.*1329_*1453del
ENST00000672896.1:c.1447_1571del	ENSP00000500117.1:p.Pro483LysfsTer17
ENST00000673312.1:c.1466_1590del	ENSP00000500186.1:n.1466_1590del
ENST00000334961.11:c.1198_1322del	ENSP00000335652.7:p.Pro400LysfsTer17
ENST00000338641.8:c.1447_1571del	ENSP00000344666.4:p.Pro483LysfsTer17
ENST00000353887.8:c.1198_1322del	ENSP00000340626.4:p.Pro400LysfsTer17
ENST00000361166.8:c.1447_1571del	ENSP00000354529.4:p.Pro483LysfsTer17
ENST00000361452.8:c.1324_1448del	ENSP00000354897.4:p.Pro442LysfsTer17
ENST00000361676.8:c.1321_1445del	ENSP00000355183.4:p.Pro441LysfsTer17
ENST00000397789.3:c.1447_1571del	ENSP00000380891.3:p.Pro483LysfsTer17
ENST00000403435.5:c.1360_1484del	ENSP00000384029.1:p.Pro454LysfsTer17
ENST00000403999.7:c.1447_1571del	ENSP00000384797.3:p.Pro483LysfsTer17
ENST00000413209.6:c.448-16556_448-16432del	ENSP00000409921.2:n.448-16556_448-16432de...
ENST00000432151.5:c.629_*90del	ENSP00000395885.1:n.[c.629_*90del;Ala210G...
NM_000268.3:c.1447_1571del , LRG_511t1:c.1447_1571del	NP_000259.1:p.Pro483LysfsTer17
NM_016418.5:c.1447_1571del , LRG_511t2:c.1447_1571del	NP_057502.2:p.Pro483LysfsTer17
NM_181825.2:c.1447_1571del	NP_861546.1:p.Pro483LysfsTer17
NM_181828.2:c.1321_1445del	NP_861966.1:p.Pro441LysfsTer17
NM_181829.2:c.1324_1448del	NP_861967.1:p.Pro442LysfsTer17
NM_181830.2:c.1198_1322del	NP_861968.1:p.Pro400LysfsTer17
NM_181831.2:c.1198_1322del	NP_861969.1:p.Pro400LysfsTer17
NM_181832.2:c.1447_1571del	NP_861970.1:p.Pro483LysfsTer17
NM_181833.2:c.448-16556_448-16432del	NP_861971.1:n.448-16556_448-16432del
NR_156186.1:n.2006_2130del
XM_017028809.2:c.1333_1457del	XP_016884298.1:p.Pro445LysfsTer17
XM_017028810.1:c.1333_1457del	XP_016884299.1:p.Pro445LysfsTer17
NM_000268.4:c.1447_1571del MANE Select	NP_000259.1:p.Pro483LysfsTer17
NM_181825.3:c.1447_1571del	NP_861546.1:p.Pro483LysfsTer17
NM_181828.3:c.1321_1445del	NP_861966.1:p.Pro441LysfsTer17
NM_181829.3:c.1324_1448del	NP_861967.1:p.Pro442LysfsTer17
NM_181830.3:c.1198_1322del	NP_861968.1:p.Pro400LysfsTer17
NM_181831.3:c.1198_1322del	NP_861969.1:p.Pro400LysfsTer17
NM_181832.3:c.1447_1571del	NP_861970.1:p.Pro483LysfsTer17
NR_156186.2:n.1929_2053del
NM_181833.3:c.448-16556_448-16432del	NP_861971.1:n.448-16556_448-16432del