Canonical Allele Identifier: CA2695230641

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29655601del , CM000684.2:g.29655601del	GRCh38
NC_000022.10:g.30051590del , CM000684.1:g.30051590del	GRCh37
NC_000022.9:g.28381590del	NCBI36
NG_009057.1:g.57046del , LRG_511:g.57046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.524del	ENSP00000354529.6:p.Asn175IlefsTer5
ENST00000673312.2:c.*18del	ENSP00000500186.2:n.*18del
ENST00000338641.10:c.524del MANE Select	ENSP00000344666.5:p.Asn175IlefsTer5
ENST00000361166.9:c.77del	ENSP00000354529.5:p.Asn26IlefsTer5
ENST00000672461.1:c.524del	ENSP00000500919.1:p.Asn175IlefsTer5
ENST00000672805.1:c.*406del	ENSP00000500295.1:n.*406del
ENST00000672896.1:c.524del	ENSP00000500117.1:p.Asn175IlefsTer5
ENST00000673312.1:c.543del	ENSP00000500186.1:n.543del
ENST00000334961.11:c.275del	ENSP00000335652.7:p.Asn92IlefsTer5
ENST00000338641.8:c.524del	ENSP00000344666.4:p.Asn175IlefsTer5
ENST00000353887.8:c.275del	ENSP00000340626.4:p.Asn92IlefsTer5
ENST00000361166.8:c.524del	ENSP00000354529.4:p.Asn175IlefsTer5
ENST00000361452.8:c.401del	ENSP00000354897.4:p.Asn134IlefsTer5
ENST00000361676.8:c.398del	ENSP00000355183.4:p.Asn133IlefsTer5
ENST00000397789.3:c.524del	ENSP00000380891.3:p.Asn175IlefsTer5
ENST00000403435.5:c.524del	ENSP00000384029.1:p.Asn175IlefsTer5
ENST00000403999.7:c.524del	ENSP00000384797.3:p.Asn175IlefsTer5
ENST00000413209.6:c.447+13316del	ENSP00000409921.2:n.447+13316del
ENST00000432151.5:c.199-5604del	ENSP00000395885.1:n.199-5604del
NM_000268.3:c.524del , LRG_511t1:c.524del	NP_000259.1:p.Asn175IlefsTer5
NM_016418.5:c.524del , LRG_511t2:c.524del	NP_057502.2:p.Asn175IlefsTer5
NM_181825.2:c.524del	NP_861546.1:p.Asn175IlefsTer5
NM_181828.2:c.398del	NP_861966.1:p.Asn133IlefsTer5
NM_181829.2:c.401del	NP_861967.1:p.Asn134IlefsTer5
NM_181830.2:c.275del	NP_861968.1:p.Asn92IlefsTer5
NM_181831.2:c.275del	NP_861969.1:p.Asn92IlefsTer5
NM_181832.2:c.524del	NP_861970.1:p.Asn175IlefsTer5
NM_181833.2:c.447+13316del	NP_861971.1:n.447+13316del
NR_156186.1:n.1083del
XM_017028809.2:c.410del	XP_016884298.1:p.Asn137IlefsTer5
XM_017028810.1:c.410del	XP_016884299.1:p.Asn137IlefsTer5
NM_000268.4:c.524del MANE Select	NP_000259.1:p.Asn175IlefsTer5
NM_181825.3:c.524del	NP_861546.1:p.Asn175IlefsTer5
NM_181828.3:c.398del	NP_861966.1:p.Asn133IlefsTer5
NM_181829.3:c.401del	NP_861967.1:p.Asn134IlefsTer5
NM_181830.3:c.275del	NP_861968.1:p.Asn92IlefsTer5
NM_181831.3:c.275del	NP_861969.1:p.Asn92IlefsTer5
NM_181832.3:c.524del	NP_861970.1:p.Asn175IlefsTer5
NR_156186.2:n.1006del
NM_181833.3:c.447+13316del	NP_861971.1:n.447+13316del