Canonical Allele Identifier: CA2695230527

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29681475_29681515del , CM000684.2:g.29681475_29681515del	GRCh38
NC_000022.10:g.30077464_30077504del , CM000684.1:g.30077464_30077504del	GRCh37
NC_000022.9:g.28407464_28407504del	NCBI36
NG_009057.1:g.82920_82960del , LRG_511:g.82920_82960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.1476_1516del	ENSP00000354529.6:p.Glu492AspfsTer14
ENST00000673312.2:c.*1105_*1145del	ENSP00000500186.2:n.*1105_*1145del
ENST00000338641.10:c.1611_1651del MANE Select	ENSP00000344666.5:p.Glu537AspfsTer14
ENST00000361166.9:c.1029_1069del	ENSP00000354529.5:p.Glu343AspfsTer14
ENST00000672461.1:c.1611_1651del	ENSP00000500919.1:p.Glu537AspfsTer14
ENST00000672805.1:c.*1493_*1533del	ENSP00000500295.1:n.*1493_*1533del
ENST00000672896.1:c.1611_1651del	ENSP00000500117.1:p.Glu537AspfsTer14
ENST00000673312.1:c.1630_1670del	ENSP00000500186.1:n.1630_1670del
ENST00000334961.11:c.1362_1402del	ENSP00000335652.7:p.Glu454AspfsTer14
ENST00000338641.8:c.1611_1651del	ENSP00000344666.4:p.Glu537AspfsTer14
ENST00000353887.8:c.1362_1402del	ENSP00000340626.4:p.Glu454AspfsTer14
ENST00000361166.8:c.1611_1651del	ENSP00000354529.4:p.Glu537AspfsTer14
ENST00000361452.8:c.1488_1528del	ENSP00000354897.4:p.Glu496AspfsTer14
ENST00000361676.8:c.1485_1525del	ENSP00000355183.4:p.Glu495AspfsTer14
ENST00000397789.3:c.1611_1651del	ENSP00000380891.3:p.Glu537AspfsTer14
ENST00000403435.5:c.1524_1564del	ENSP00000384029.1:p.Glu508AspfsTer14
ENST00000403999.7:c.1611_1651del	ENSP00000384797.3:p.Glu537AspfsTer14
ENST00000413209.6:c.448-13277_448-13237del	ENSP00000409921.2:n.448-13277_448-13237del
ENST00000432151.5:c.*93+3152_*93+3192del	ENSP00000395885.1:n.*93+3152_*93+3192del
NM_000268.3:c.1611_1651del , LRG_511t1:c.1611_1651del	NP_000259.1:p.Glu537AspfsTer14
NM_016418.5:c.1611_1651del , LRG_511t2:c.1611_1651del	NP_057502.2:p.Glu537AspfsTer14
NM_181825.2:c.1611_1651del	NP_861546.1:p.Glu537AspfsTer14
NM_181828.2:c.1485_1525del	NP_861966.1:p.Glu495AspfsTer14
NM_181829.2:c.1488_1528del	NP_861967.1:p.Glu496AspfsTer14
NM_181830.2:c.1362_1402del	NP_861968.1:p.Glu454AspfsTer14
NM_181831.2:c.1362_1402del	NP_861969.1:p.Glu454AspfsTer14
NM_181832.2:c.1611_1651del	NP_861970.1:p.Glu537AspfsTer14
NM_181833.2:c.448-13277_448-13237del	NP_861971.1:n.448-13277_448-13237del
NR_156186.1:n.2170_2210del
XM_017028809.2:c.1497_1537del	XP_016884298.1:p.Glu499AspfsTer14
XM_017028810.1:c.1497_1537del	XP_016884299.1:p.Glu499AspfsTer14
NM_000268.4:c.1611_1651del MANE Select	NP_000259.1:p.Glu537AspfsTer14
NM_181825.3:c.1611_1651del	NP_861546.1:p.Glu537AspfsTer14
NM_181828.3:c.1485_1525del	NP_861966.1:p.Glu495AspfsTer14
NM_181829.3:c.1488_1528del	NP_861967.1:p.Glu496AspfsTer14
NM_181830.3:c.1362_1402del	NP_861968.1:p.Glu454AspfsTer14
NM_181831.3:c.1362_1402del	NP_861969.1:p.Glu454AspfsTer14
NM_181832.3:c.1611_1651del	NP_861970.1:p.Glu537AspfsTer14
NR_156186.2:n.2093_2133del
NM_181833.3:c.448-13277_448-13237del	NP_861971.1:n.448-13277_448-13237del