Canonical Allele Identifier: CA2400668145

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639121_29639122delinsCA , CM000684.2:g.29639121_29639122delinsCA	GRCh38
NC_000022.10:g.30035110_30035111delinsCA , CM000684.1:g.30035110_30035111delinsCA	GRCh37
NC_000022.9:g.28365110_28365111delinsCA	NCBI36
NG_009057.1:g.40566_40567delinsCA , LRG_511:g.40566_40567delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.272_273delinsCA	ENSP00000354529.6:p.Pro91=
ENST00000673312.2:c.272_273delinsCA	ENSP00000500186.2:p.Pro91=
ENST00000338641.10:c.272_273delinsCA MANE Select	ENSP00000344666.5:p.Pro91=
ENST00000672461.1:c.272_273delinsCA	ENSP00000500919.1:p.Pro91=
ENST00000672805.1:c.*154_*155delinsCA	ENSP00000500295.1:n.*154_*155delinsCA
ENST00000672896.1:c.272_273delinsCA	ENSP00000500117.1:p.Pro91=
ENST00000673312.1:c.185_186delinsCA	ENSP00000500186.1:p.Pro62=
ENST00000334961.11:c.115-3081_115-3080delinsCA	ENSP00000335652.7:n.115-3081_115-3080deli...
ENST00000338641.8:c.272_273delinsCA	ENSP00000344666.4:p.Pro91=
ENST00000353887.8:c.115-3081_115-3080delinsCA	ENSP00000340626.4:n.115-3081_115-3080deli...
ENST00000361166.8:c.272_273delinsCA	ENSP00000354529.4:p.Pro91=
ENST00000361452.8:c.240+2245_240+2246delinsCA	ENSP00000354897.4:n.240+2245_240+2246deli...
ENST00000361676.8:c.146_147delinsCA	ENSP00000355183.4:p.Pro49=
ENST00000397789.3:c.272_273delinsCA	ENSP00000380891.3:p.Pro91=
ENST00000403435.5:c.272_273delinsCA	ENSP00000384029.1:p.Pro91=
ENST00000403999.7:c.272_273delinsCA	ENSP00000384797.3:p.Pro91=
ENST00000413209.6:c.272_273delinsCA	ENSP00000409921.2:p.Pro91=
ENST00000432151.5:c.115-3081_115-3080delinsCA	ENSP00000395885.1:n.115-3081_115-3080deli...
NM_000268.3:c.272_273delinsCA , LRG_511t1:c.272_273delinsCA	NP_000259.1:p.Pro91=
NM_016418.5:c.272_273delinsCA , LRG_511t2:c.272_273delinsCA	NP_057502.2:p.Pro91=
NM_181825.2:c.272_273delinsCA	NP_861546.1:p.Pro91=
NM_181828.2:c.146_147delinsCA	NP_861966.1:p.Pro49=
NM_181829.2:c.240+2245_240+2246delinsCA	NP_861967.1:n.240+2245_240+2246delinsCA
NM_181830.2:c.115-3081_115-3080delinsCA	NP_861968.1:n.115-3081_115-3080delinsCA
NM_181831.2:c.115-3081_115-3080delinsCA	NP_861969.1:n.115-3081_115-3080delinsCA
NM_181832.2:c.272_273delinsCA	NP_861970.1:p.Pro91=
NM_181833.2:c.272_273delinsCA	NP_861971.1:p.Pro91=
NR_156186.1:n.831_832delinsCA
XM_017028809.2:c.158_159delinsCA	XP_016884298.1:p.Pro53=
XM_017028810.1:c.158_159delinsCA	XP_016884299.1:p.Pro53=
NM_000268.4:c.272_273delinsCA MANE Select	NP_000259.1:p.Pro91=
NM_181825.3:c.272_273delinsCA	NP_861546.1:p.Pro91=
NM_181828.3:c.146_147delinsCA	NP_861966.1:p.Pro49=
NM_181829.3:c.240+2245_240+2246delinsCA	NP_861967.1:n.240+2245_240+2246delinsCA
NM_181830.3:c.115-3081_115-3080delinsCA	NP_861968.1:n.115-3081_115-3080delinsCA
NM_181831.3:c.115-3081_115-3080delinsCA	NP_861969.1:n.115-3081_115-3080delinsCA
NM_181832.3:c.272_273delinsCA	NP_861970.1:p.Pro91=
NR_156186.2:n.754_755delinsCA
NM_181833.3:c.272_273delinsCA	NP_861971.1:p.Pro91=