Canonical Allele Identifier: CA2400675233

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654437_29654441delinsCCCAT , CM000684.2:g.29654437_29654441delinsCCCAT	GRCh38
NC_000022.10:g.30050426_30050430delinsCCCAT , CM000684.1:g.30050426_30050430delinsCCCAT	GRCh37
NC_000022.9:g.28380426_28380430delinsCCCAT	NCBI36
NG_009057.1:g.55882_55886delinsCCCAT , LRG_511:g.55882_55886delinsCCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.448-220_448-216delinsCCCAT	ENSP00000354529.6:n.448-220_448-216delinsCCCAT
ENST00000673312.2:c.448-220_448-216delinsCCCAT	ENSP00000500186.2:n.448-220_448-216delinsCCCAT
ENST00000338641.10:c.448-220_448-216delinsCCCAT MANE Select	ENSP00000344666.5:n.448-220_448-216delinsCCCAT
ENST00000672461.1:c.448-220_448-216delinsCCCAT	ENSP00000500919.1:n.448-220_448-216delinsCCCAT
ENST00000672805.1:c.*330-220_*330-216delinsCCCAT	ENSP00000500295.1:n.*330-220_*330-216delinsCCCAT
ENST00000672896.1:c.448-220_448-216delinsCCCAT	ENSP00000500117.1:n.448-220_448-216delinsCCCAT
ENST00000673312.1:c.361-220_361-216delinsCCCAT	ENSP00000500186.1:n.361-220_361-216delinsCCCAT
ENST00000334961.11:c.199-220_199-216delinsCCCAT	ENSP00000335652.7:n.199-220_199-216delinsCCCAT
ENST00000338641.8:c.448-220_448-216delinsCCCAT	ENSP00000344666.4:n.448-220_448-216delinsCCCAT
ENST00000353887.8:c.199-220_199-216delinsCCCAT	ENSP00000340626.4:n.199-220_199-216delinsCCCAT
ENST00000361166.8:c.448-220_448-216delinsCCCAT	ENSP00000354529.4:n.448-220_448-216delinsCCCAT
ENST00000361452.8:c.325-220_325-216delinsCCCAT	ENSP00000354897.4:n.325-220_325-216delinsCCCAT
ENST00000361676.8:c.322-220_322-216delinsCCCAT	ENSP00000355183.4:n.322-220_322-216delinsCCCAT
ENST00000397789.3:c.448-220_448-216delinsCCCAT	ENSP00000380891.3:n.448-220_448-216delinsCCCAT
ENST00000403435.5:c.448-220_448-216delinsCCCAT	ENSP00000384029.1:n.448-220_448-216delinsCCCAT
ENST00000403999.7:c.448-220_448-216delinsCCCAT	ENSP00000384797.3:n.448-220_448-216delinsCCCAT
ENST00000413209.6:c.447+12152_447+12156delinsCCCAT	ENSP00000409921.2:n.447+12152_447+12156delinsCCCAT
ENST00000432151.5:c.199-6768_199-6764delinsCCCAT	ENSP00000395885.1:n.199-6768_199-6764delinsCCCAT
NM_000268.3:c.448-220_448-216delinsCCCAT , LRG_511t1:c.448-220_448-216delinsCCCAT	NP_000259.1:n.448-220_448-216delinsCCCAT
NM_016418.5:c.448-220_448-216delinsCCCAT , LRG_511t2:c.448-220_448-216delinsCCCAT	NP_057502.2:n.448-220_448-216delinsCCCAT
NM_181825.2:c.448-220_448-216delinsCCCAT	NP_861546.1:n.448-220_448-216delinsCCCAT
NM_181828.2:c.322-220_322-216delinsCCCAT	NP_861966.1:n.322-220_322-216delinsCCCAT
NM_181829.2:c.325-220_325-216delinsCCCAT	NP_861967.1:n.325-220_325-216delinsCCCAT
NM_181830.2:c.199-220_199-216delinsCCCAT	NP_861968.1:n.199-220_199-216delinsCCCAT
NM_181831.2:c.199-220_199-216delinsCCCAT	NP_861969.1:n.199-220_199-216delinsCCCAT
NM_181832.2:c.448-220_448-216delinsCCCAT	NP_861970.1:n.448-220_448-216delinsCCCAT
NM_181833.2:c.447+12152_447+12156delinsCCCAT	NP_861971.1:n.447+12152_447+12156delinsCCCAT
NR_156186.1:n.1007-220_1007-216delinsCCCAT
XM_017028809.2:c.334-220_334-216delinsCCCAT	XP_016884298.1:n.334-220_334-216delinsCCCAT
XM_017028810.1:c.334-220_334-216delinsCCCAT	XP_016884299.1:n.334-220_334-216delinsCCCAT
NM_000268.4:c.448-220_448-216delinsCCCAT MANE Select	NP_000259.1:n.448-220_448-216delinsCCCAT
NM_181825.3:c.448-220_448-216delinsCCCAT	NP_861546.1:n.448-220_448-216delinsCCCAT
NM_181828.3:c.322-220_322-216delinsCCCAT	NP_861966.1:n.322-220_322-216delinsCCCAT
NM_181829.3:c.325-220_325-216delinsCCCAT	NP_861967.1:n.325-220_325-216delinsCCCAT
NM_181830.3:c.199-220_199-216delinsCCCAT	NP_861968.1:n.199-220_199-216delinsCCCAT
NM_181831.3:c.199-220_199-216delinsCCCAT	NP_861969.1:n.199-220_199-216delinsCCCAT
NM_181832.3:c.448-220_448-216delinsCCCAT	NP_861970.1:n.448-220_448-216delinsCCCAT
NR_156186.2:n.930-220_930-216delinsCCCAT
NM_181833.3:c.447+12152_447+12156delinsCCCAT	NP_861971.1:n.447+12152_447+12156delinsCCCAT