Canonical Allele Identifier: CA2400683941

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29674839_29674841delinsCAA , CM000684.2:g.29674839_29674841delinsCAA	GRCh38
NC_000022.10:g.30070828_30070830delinsCAA , CM000684.1:g.30070828_30070830delinsCAA	GRCh37
NC_000022.9:g.28400828_28400830delinsCAA	NCBI36
NG_009057.1:g.76284_76286delinsCAA , LRG_511:g.76284_76286delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.1209_1211delinsCAA	ENSP00000354529.6:p.Ala403=
ENST00000673312.2:c.*838_*840delinsCAA	ENSP00000500186.2:n.*838_*840delinsCAA
ENST00000338641.10:c.1344_1346delinsCAA MANE Select	ENSP00000344666.5:p.Ala448=
ENST00000361166.9:c.762_764delinsCAA	ENSP00000354529.5:p.Ala254=
ENST00000672461.1:c.1344_1346delinsCAA	ENSP00000500919.1:p.Ala448=
ENST00000672805.1:c.*1226_*1228delinsCAA	ENSP00000500295.1:n.*1226_*1228delinsCAA
ENST00000672896.1:c.1344_1346delinsCAA	ENSP00000500117.1:p.Ala448=
ENST00000673312.1:c.1363_1365delinsCAA	ENSP00000500186.1:n.1363_1365delinsCAA
ENST00000334961.11:c.1095_1097delinsCAA	ENSP00000335652.7:p.Ala365=
ENST00000338641.8:c.1344_1346delinsCAA	ENSP00000344666.4:p.Ala448=
ENST00000353887.8:c.1095_1097delinsCAA	ENSP00000340626.4:p.Ala365=
ENST00000361166.8:c.1344_1346delinsCAA	ENSP00000354529.4:p.Ala448=
ENST00000361452.8:c.1221_1223delinsCAA	ENSP00000354897.4:p.Ala407=
ENST00000361676.8:c.1218_1220delinsCAA	ENSP00000355183.4:p.Ala406=
ENST00000397789.3:c.1344_1346delinsCAA	ENSP00000380891.3:p.Ala448=
ENST00000403435.5:c.1257_1259delinsCAA	ENSP00000384029.1:p.Ala419=
ENST00000403999.7:c.1344_1346delinsCAA	ENSP00000384797.3:p.Ala448=
ENST00000413209.6:c.448-19913_448-19911delinsCAA	ENSP00000409921.2:n.448-19913_448-19911delinsCAA
ENST00000432151.5:c.526_528delinsCAA	ENSP00000395885.1:p.Gln176=
NM_000268.3:c.1344_1346delinsCAA , LRG_511t1:c.1344_1346delinsCAA	NP_000259.1:p.Ala448=
NM_016418.5:c.1344_1346delinsCAA , LRG_511t2:c.1344_1346delinsCAA	NP_057502.2:p.Ala448=
NM_181825.2:c.1344_1346delinsCAA	NP_861546.1:p.Ala448=
NM_181828.2:c.1218_1220delinsCAA	NP_861966.1:p.Ala406=
NM_181829.2:c.1221_1223delinsCAA	NP_861967.1:p.Ala407=
NM_181830.2:c.1095_1097delinsCAA	NP_861968.1:p.Ala365=
NM_181831.2:c.1095_1097delinsCAA	NP_861969.1:p.Ala365=
NM_181832.2:c.1344_1346delinsCAA	NP_861970.1:p.Ala448=
NM_181833.2:c.448-19913_448-19911delinsCAA	NP_861971.1:n.448-19913_448-19911delinsCAA
NR_156186.1:n.1903_1905delinsCAA
XM_017028809.2:c.1230_1232delinsCAA	XP_016884298.1:p.Ala410=
XM_017028810.1:c.1230_1232delinsCAA	XP_016884299.1:p.Ala410=
NM_000268.4:c.1344_1346delinsCAA MANE Select	NP_000259.1:p.Ala448=
NM_181825.3:c.1344_1346delinsCAA	NP_861546.1:p.Ala448=
NM_181828.3:c.1218_1220delinsCAA	NP_861966.1:p.Ala406=
NM_181829.3:c.1221_1223delinsCAA	NP_861967.1:p.Ala407=
NM_181830.3:c.1095_1097delinsCAA	NP_861968.1:p.Ala365=
NM_181831.3:c.1095_1097delinsCAA	NP_861969.1:p.Ala365=
NM_181832.3:c.1344_1346delinsCAA	NP_861970.1:p.Ala448=
NR_156186.2:n.1826_1828delinsCAA
NM_181833.3:c.448-19913_448-19911delinsCAA	NP_861971.1:n.448-19913_448-19911delinsCAA