Canonical Allele Identifier: CA2580611898

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655650del , CM000684.2:g.29655650del	GRCh38
NC_000022.10:g.30051639del , CM000684.1:g.30051639del	GRCh37
NC_000022.9:g.28381639del	NCBI36
NG_009057.1:g.57095del , LRG_511:g.57095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.573del	ENSP00000354529.6:p.Trp191CysfsTer18
ENST00000673312.2:c.*67del	ENSP00000500186.2:n.*67del
ENST00000338641.10:c.573del MANE Select	ENSP00000344666.5:p.Trp191CysfsTer18
ENST00000361166.9:c.126del	ENSP00000354529.5:p.Trp42CysfsTer18
ENST00000672461.1:c.573del	ENSP00000500919.1:p.Trp191CysfsTer18
ENST00000672805.1:c.*455del	ENSP00000500295.1:n.*455del
ENST00000672896.1:c.573del	ENSP00000500117.1:p.Trp191CysfsTer18
ENST00000673312.1:c.592del	ENSP00000500186.1:n.592del
ENST00000334961.11:c.324del	ENSP00000335652.7:p.Trp108CysfsTer18
ENST00000338641.8:c.573del	ENSP00000344666.4:p.Trp191CysfsTer18
ENST00000353887.8:c.324del	ENSP00000340626.4:p.Trp108CysfsTer18
ENST00000361166.8:c.573del	ENSP00000354529.4:p.Trp191CysfsTer18
ENST00000361452.8:c.450del	ENSP00000354897.4:p.Trp150CysfsTer18
ENST00000361676.8:c.447del	ENSP00000355183.4:p.Trp149CysfsTer18
ENST00000397789.3:c.573del	ENSP00000380891.3:p.Trp191CysfsTer18
ENST00000403435.5:c.573del	ENSP00000384029.1:p.Trp191CysfsTer18
ENST00000403999.7:c.573del	ENSP00000384797.3:p.Trp191CysfsTer18
ENST00000413209.6:c.447+13365del	ENSP00000409921.2:n.447+13365del
ENST00000432151.5:c.199-5555del	ENSP00000395885.1:n.199-5555del
NM_000268.3:c.573del , LRG_511t1:c.573del	NP_000259.1:p.Trp191CysfsTer18
NM_016418.5:c.573del , LRG_511t2:c.573del	NP_057502.2:p.Trp191CysfsTer18
NM_181825.2:c.573del	NP_861546.1:p.Trp191CysfsTer18
NM_181828.2:c.447del	NP_861966.1:p.Trp149CysfsTer18
NM_181829.2:c.450del	NP_861967.1:p.Trp150CysfsTer18
NM_181830.2:c.324del	NP_861968.1:p.Trp108CysfsTer18
NM_181831.2:c.324del	NP_861969.1:p.Trp108CysfsTer18
NM_181832.2:c.573del	NP_861970.1:p.Trp191CysfsTer18
NM_181833.2:c.447+13365del	NP_861971.1:n.447+13365del
NR_156186.1:n.1132del
XM_017028809.2:c.459del	XP_016884298.1:p.Trp153CysfsTer18
XM_017028810.1:c.459del	XP_016884299.1:p.Trp153CysfsTer18
NM_000268.4:c.573del MANE Select	NP_000259.1:p.Trp191CysfsTer18
NM_181825.3:c.573del	NP_861546.1:p.Trp191CysfsTer18
NM_181828.3:c.447del	NP_861966.1:p.Trp149CysfsTer18
NM_181829.3:c.450del	NP_861967.1:p.Trp150CysfsTer18
NM_181830.3:c.324del	NP_861968.1:p.Trp108CysfsTer18
NM_181831.3:c.324del	NP_861969.1:p.Trp108CysfsTer18
NM_181832.3:c.573del	NP_861970.1:p.Trp191CysfsTer18
NR_156186.2:n.1055del
NM_181833.3:c.447+13365del	NP_861971.1:n.447+13365del