Canonical Allele Identifier: CA2695230623

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639144_29639154del , CM000684.2:g.29639144_29639154del	GRCh38
NC_000022.10:g.30035133_30035143del , CM000684.1:g.30035133_30035143del	GRCh37
NC_000022.9:g.28365133_28365143del	NCBI36
NG_009057.1:g.40589_40599del , LRG_511:g.40589_40599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.295_305del	ENSP00000354529.6:p.Lys99Ter
ENST00000673312.2:c.295_305del	ENSP00000500186.2:p.Lys99Ter
ENST00000338641.10:c.295_305del MANE Select	ENSP00000344666.5:p.Lys99Ter
ENST00000672461.1:c.295_305del	ENSP00000500919.1:p.Lys99Ter
ENST00000672805.1:c.*177_*187del	ENSP00000500295.1:n.*177_*187del
ENST00000672896.1:c.295_305del	ENSP00000500117.1:p.Lys99Ter
ENST00000673312.1:c.208_218del	ENSP00000500186.1:p.Lys70Ter
ENST00000334961.11:c.115-3058_115-3048del	ENSP00000335652.7:n.115-3058_115-3048del
ENST00000338641.8:c.295_305del	ENSP00000344666.4:p.Lys99Ter
ENST00000353887.8:c.115-3058_115-3048del	ENSP00000340626.4:n.115-3058_115-3048del
ENST00000361166.8:c.295_305del	ENSP00000354529.4:p.Lys99Ter
ENST00000361452.8:c.240+2268_240+2278del	ENSP00000354897.4:n.240+2268_240+2278del
ENST00000361676.8:c.169_179del	ENSP00000355183.4:p.Lys57Ter
ENST00000397789.3:c.295_305del	ENSP00000380891.3:p.Lys99Ter
ENST00000403435.5:c.295_305del	ENSP00000384029.1:p.Lys99Ter
ENST00000403999.7:c.295_305del	ENSP00000384797.3:p.Lys99Ter
ENST00000413209.6:c.295_305del	ENSP00000409921.2:p.Lys99Ter
ENST00000432151.5:c.115-3058_115-3048del	ENSP00000395885.1:n.115-3058_115-3048del
NM_000268.3:c.295_305del , LRG_511t1:c.295_305del	NP_000259.1:p.Lys99Ter
NM_016418.5:c.295_305del , LRG_511t2:c.295_305del	NP_057502.2:p.Lys99Ter
NM_181825.2:c.295_305del	NP_861546.1:p.Lys99Ter
NM_181828.2:c.169_179del	NP_861966.1:p.Lys57Ter
NM_181829.2:c.240+2268_240+2278del	NP_861967.1:n.240+2268_240+2278del
NM_181830.2:c.115-3058_115-3048del	NP_861968.1:n.115-3058_115-3048del
NM_181831.2:c.115-3058_115-3048del	NP_861969.1:n.115-3058_115-3048del
NM_181832.2:c.295_305del	NP_861970.1:p.Lys99Ter
NM_181833.2:c.295_305del	NP_861971.1:p.Lys99Ter
NR_156186.1:n.854_864del
XM_017028809.2:c.181_191del	XP_016884298.1:p.Lys61Ter
XM_017028810.1:c.181_191del	XP_016884299.1:p.Lys61Ter
NM_000268.4:c.295_305del MANE Select	NP_000259.1:p.Lys99Ter
NM_181825.3:c.295_305del	NP_861546.1:p.Lys99Ter
NM_181828.3:c.169_179del	NP_861966.1:p.Lys57Ter
NM_181829.3:c.240+2268_240+2278del	NP_861967.1:n.240+2268_240+2278del
NM_181830.3:c.115-3058_115-3048del	NP_861968.1:n.115-3058_115-3048del
NM_181831.3:c.115-3058_115-3048del	NP_861969.1:n.115-3058_115-3048del
NM_181832.3:c.295_305del	NP_861970.1:p.Lys99Ter
NR_156186.2:n.777_787del
NM_181833.3:c.295_305del	NP_861971.1:p.Lys99Ter