Canonical Allele Identifier: CA2695230637

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655595_29655598del , CM000684.2:g.29655595_29655598del	GRCh38
NC_000022.10:g.30051584_30051587del , CM000684.1:g.30051584_30051587del	GRCh37
NC_000022.9:g.28381584_28381587del	NCBI36
NG_009057.1:g.57040_57043del , LRG_511:g.57040_57043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.518_521del	ENSP00000354529.6:p.Val173GlufsTer6
ENST00000673312.2:c.*12_*15del	ENSP00000500186.2:n.*12_*15del
ENST00000338641.10:c.518_521del MANE Select	ENSP00000344666.5:p.Val173GlufsTer6
ENST00000361166.9:c.71_74del	ENSP00000354529.5:p.Val24GlufsTer6
ENST00000672461.1:c.518_521del	ENSP00000500919.1:p.Val173GlufsTer6
ENST00000672805.1:c.*400_*403del	ENSP00000500295.1:n.*400_*403del
ENST00000672896.1:c.518_521del	ENSP00000500117.1:p.Val173GlufsTer6
ENST00000673312.1:c.537_540del	ENSP00000500186.1:n.537_540del
ENST00000334961.11:c.269_272del	ENSP00000335652.7:p.Val90GlufsTer6
ENST00000338641.8:c.518_521del	ENSP00000344666.4:p.Val173GlufsTer6
ENST00000353887.8:c.269_272del	ENSP00000340626.4:p.Val90GlufsTer6
ENST00000361166.8:c.518_521del	ENSP00000354529.4:p.Val173GlufsTer6
ENST00000361452.8:c.395_398del	ENSP00000354897.4:p.Val132GlufsTer6
ENST00000361676.8:c.392_395del	ENSP00000355183.4:p.Val131GlufsTer6
ENST00000397789.3:c.518_521del	ENSP00000380891.3:p.Val173GlufsTer6
ENST00000403435.5:c.518_521del	ENSP00000384029.1:p.Val173GlufsTer6
ENST00000403999.7:c.518_521del	ENSP00000384797.3:p.Val173GlufsTer6
ENST00000413209.6:c.447+13310_447+13313del	ENSP00000409921.2:n.447+13310_447+13313del
ENST00000432151.5:c.199-5610_199-5607del	ENSP00000395885.1:n.199-5610_199-5607del
NM_000268.3:c.518_521del , LRG_511t1:c.518_521del	NP_000259.1:p.Val173GlufsTer6
NM_016418.5:c.518_521del , LRG_511t2:c.518_521del	NP_057502.2:p.Val173GlufsTer6
NM_181825.2:c.518_521del	NP_861546.1:p.Val173GlufsTer6
NM_181828.2:c.392_395del	NP_861966.1:p.Val131GlufsTer6
NM_181829.2:c.395_398del	NP_861967.1:p.Val132GlufsTer6
NM_181830.2:c.269_272del	NP_861968.1:p.Val90GlufsTer6
NM_181831.2:c.269_272del	NP_861969.1:p.Val90GlufsTer6
NM_181832.2:c.518_521del	NP_861970.1:p.Val173GlufsTer6
NM_181833.2:c.447+13310_447+13313del	NP_861971.1:n.447+13310_447+13313del
NR_156186.1:n.1077_1080del
XM_017028809.2:c.404_407del	XP_016884298.1:p.Val135GlufsTer6
XM_017028810.1:c.404_407del	XP_016884299.1:p.Val135GlufsTer6
NM_000268.4:c.518_521del MANE Select	NP_000259.1:p.Val173GlufsTer6
NM_181825.3:c.518_521del	NP_861546.1:p.Val173GlufsTer6
NM_181828.3:c.392_395del	NP_861966.1:p.Val131GlufsTer6
NM_181829.3:c.395_398del	NP_861967.1:p.Val132GlufsTer6
NM_181830.3:c.269_272del	NP_861968.1:p.Val90GlufsTer6
NM_181831.3:c.269_272del	NP_861969.1:p.Val90GlufsTer6
NM_181832.3:c.518_521del	NP_861970.1:p.Val173GlufsTer6
NR_156186.2:n.1000_1003del
NM_181833.3:c.447+13310_447+13313del	NP_861971.1:n.447+13310_447+13313del