Canonical Allele Identifier: CA2548657980

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654623_29654624insGAAAATACAAAG , CM000684.2:g.29654623_29654624insGAAAATACAAAG	GRCh38
NC_000022.10:g.30050612_30050613insGAAAATACAAAG , CM000684.1:g.30050612_30050613insGAAAATACAAAG	GRCh37
NC_000022.9:g.28380612_28380613insGAAAATACAAAG	NCBI36
NG_009057.1:g.56068_56069insGAAAATACAAAG , LRG_511:g.56068_56069insGAAAATACAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.448-34_448-33insGAAAATACAAAG	ENSP00000354529.6:n.448-34_448-33insGAAAATACAAAG
ENST00000673312.2:c.448-34_448-33insGAAAATACAAAG	ENSP00000500186.2:n.448-34_448-33insGAAAATACAAAG
ENST00000338641.10:c.448-34_448-33insGAAAATACAAAG MANE Select	ENSP00000344666.5:n.448-34_448-33insGAAAATACAAAG
ENST00000672461.1:c.448-34_448-33insGAAAATACAAAG	ENSP00000500919.1:n.448-34_448-33insGAAAATACAAAG
ENST00000672805.1:c.*330-34_*330-33insGAAAATACAAAG	ENSP00000500295.1:n.*330-34_*330-33insGAAAATACAAAG
ENST00000672896.1:c.448-34_448-33insGAAAATACAAAG	ENSP00000500117.1:n.448-34_448-33insGAAAATACAAAG
ENST00000673312.1:c.361-34_361-33insGAAAATACAAAG	ENSP00000500186.1:n.361-34_361-33insGAAAATACAAAG
ENST00000334961.11:c.199-34_199-33insGAAAATACAAAG	ENSP00000335652.7:n.199-34_199-33insGAAAATACAAAG
ENST00000338641.8:c.448-34_448-33insGAAAATACAAAG	ENSP00000344666.4:n.448-34_448-33insGAAAATACAAAG
ENST00000353887.8:c.199-34_199-33insGAAAATACAAAG	ENSP00000340626.4:n.199-34_199-33insGAAAATACAAAG
ENST00000361166.8:c.448-34_448-33insGAAAATACAAAG	ENSP00000354529.4:n.448-34_448-33insGAAAATACAAAG
ENST00000361452.8:c.325-34_325-33insGAAAATACAAAG	ENSP00000354897.4:n.325-34_325-33insGAAAATACAAAG
ENST00000361676.8:c.322-34_322-33insGAAAATACAAAG	ENSP00000355183.4:n.322-34_322-33insGAAAATACAAAG
ENST00000397789.3:c.448-34_448-33insGAAAATACAAAG	ENSP00000380891.3:n.448-34_448-33insGAAAATACAAAG
ENST00000403435.5:c.448-34_448-33insGAAAATACAAAG	ENSP00000384029.1:n.448-34_448-33insGAAAATACAAAG
ENST00000403999.7:c.448-34_448-33insGAAAATACAAAG	ENSP00000384797.3:n.448-34_448-33insGAAAATACAAAG
ENST00000413209.6:c.447+12338_447+12339insGAAAATACAAAG	ENSP00000409921.2:n.447+12338_447+12339insGAAAATACAAAG
ENST00000432151.5:c.199-6582_199-6581insGAAAATACAAAG	ENSP00000395885.1:n.199-6582_199-6581insGAAAATACAAAG
NM_000268.3:c.448-34_448-33insGAAAATACAAAG , LRG_511t1:c.448-34_448-33insGAAAATACAAAG	NP_000259.1:n.448-34_448-33insGAAAATACAAAG
NM_016418.5:c.448-34_448-33insGAAAATACAAAG , LRG_511t2:c.448-34_448-33insGAAAATACAAAG	NP_057502.2:n.448-34_448-33insGAAAATACAAAG
NM_181825.2:c.448-34_448-33insGAAAATACAAAG	NP_861546.1:n.448-34_448-33insGAAAATACAAAG
NM_181828.2:c.322-34_322-33insGAAAATACAAAG	NP_861966.1:n.322-34_322-33insGAAAATACAAAG
NM_181829.2:c.325-34_325-33insGAAAATACAAAG	NP_861967.1:n.325-34_325-33insGAAAATACAAAG
NM_181830.2:c.199-34_199-33insGAAAATACAAAG	NP_861968.1:n.199-34_199-33insGAAAATACAAAG
NM_181831.2:c.199-34_199-33insGAAAATACAAAG	NP_861969.1:n.199-34_199-33insGAAAATACAAAG
NM_181832.2:c.448-34_448-33insGAAAATACAAAG	NP_861970.1:n.448-34_448-33insGAAAATACAAAG
NM_181833.2:c.447+12338_447+12339insGAAAATACAAAG	NP_861971.1:n.447+12338_447+12339insGAAAATACAAAG
NR_156186.1:n.1007-34_1007-33insGAAAATACAAAG
XM_017028809.2:c.334-34_334-33insGAAAATACAAAG	XP_016884298.1:n.334-34_334-33insGAAAATACAAAG
XM_017028810.1:c.334-34_334-33insGAAAATACAAAG	XP_016884299.1:n.334-34_334-33insGAAAATACAAAG
NM_000268.4:c.448-34_448-33insGAAAATACAAAG MANE Select	NP_000259.1:n.448-34_448-33insGAAAATACAAAG
NM_181825.3:c.448-34_448-33insGAAAATACAAAG	NP_861546.1:n.448-34_448-33insGAAAATACAAAG
NM_181828.3:c.322-34_322-33insGAAAATACAAAG	NP_861966.1:n.322-34_322-33insGAAAATACAAAG
NM_181829.3:c.325-34_325-33insGAAAATACAAAG	NP_861967.1:n.325-34_325-33insGAAAATACAAAG
NM_181830.3:c.199-34_199-33insGAAAATACAAAG	NP_861968.1:n.199-34_199-33insGAAAATACAAAG
NM_181831.3:c.199-34_199-33insGAAAATACAAAG	NP_861969.1:n.199-34_199-33insGAAAATACAAAG
NM_181832.3:c.448-34_448-33insGAAAATACAAAG	NP_861970.1:n.448-34_448-33insGAAAATACAAAG
NR_156186.2:n.930-34_930-33insGAAAATACAAAG
NM_181833.3:c.447+12338_447+12339insGAAAATACAAAG	NP_861971.1:n.447+12338_447+12339insGAAAATACAAAG