Canonical Allele Identifier: CA1139532170
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29674911delinsGG , CM000684.2:g.29674911delinsGG GRCh38
NC_000022.10:g.30070900delinsGG , CM000684.1:g.30070900delinsGG GRCh37
NC_000022.9:g.28400900delinsGG NCBI36
NG_009057.1:g.76356delinsGG , LRG_511:g.76356delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1281delinsGG ENSP00000354529.6:p.Leu428AlafsTer22
ENST00000673312.2:c.*910delinsGG ENSP00000500186.2:n.*910delinsGG
ENST00000338641.10:c.1416delinsGG MANE Select ENSP00000344666.5:p.Leu473AlafsTer22
ENST00000361166.9:c.834delinsGG ENSP00000354529.5:p.Leu279AlafsTer22
ENST00000672461.1:c.1416delinsGG ENSP00000500919.1:p.Leu473AlafsTer22
ENST00000672805.1:c.*1298delinsGG ENSP00000500295.1:n.*1298delinsGG
ENST00000672896.1:c.1416delinsGG ENSP00000500117.1:p.Leu473AlafsTer22
ENST00000673312.1:c.1435delinsGG ENSP00000500186.1:n.1435delinsGG
ENST00000334961.11:c.1167delinsGG ENSP00000335652.7:p.Leu390AlafsTer22
ENST00000338641.8:c.1416delinsGG ENSP00000344666.4:p.Leu473AlafsTer22
ENST00000353887.8:c.1167delinsGG ENSP00000340626.4:p.Leu390AlafsTer22
ENST00000361166.8:c.1416delinsGG ENSP00000354529.4:p.Leu473AlafsTer22
ENST00000361452.8:c.1293delinsGG ENSP00000354897.4:p.Leu432AlafsTer22
ENST00000361676.8:c.1290delinsGG ENSP00000355183.4:p.Leu431AlafsTer22
ENST00000397789.3:c.1416delinsGG ENSP00000380891.3:p.Leu473AlafsTer22
ENST00000403435.5:c.1329delinsGG ENSP00000384029.1:p.Leu444AlafsTer22
ENST00000403999.7:c.1416delinsGG ENSP00000384797.3:p.Leu473AlafsTer22
ENST00000413209.6:c.448-19841delinsGG ENSP00000409921.2:n.448-19841delinsGG
ENST00000432151.5:c.598delinsGG ENSP00000395885.1:p.Pro200GlyfsTer13
NM_000268.3:c.1416delinsGG , LRG_511t1:c.1416delinsGG NP_000259.1:p.Leu473AlafsTer22
NM_016418.5:c.1416delinsGG , LRG_511t2:c.1416delinsGG NP_057502.2:p.Leu473AlafsTer22
NM_181825.2:c.1416delinsGG NP_861546.1:p.Leu473AlafsTer22
NM_181828.2:c.1290delinsGG NP_861966.1:p.Leu431AlafsTer22
NM_181829.2:c.1293delinsGG NP_861967.1:p.Leu432AlafsTer22
NM_181830.2:c.1167delinsGG NP_861968.1:p.Leu390AlafsTer22
NM_181831.2:c.1167delinsGG NP_861969.1:p.Leu390AlafsTer22
NM_181832.2:c.1416delinsGG NP_861970.1:p.Leu473AlafsTer22
NM_181833.2:c.448-19841delinsGG NP_861971.1:n.448-19841delinsGG
NR_156186.1:n.1975delinsGG
XM_017028809.2:c.1302delinsGG XP_016884298.1:p.Leu435AlafsTer22
XM_017028810.1:c.1302delinsGG XP_016884299.1:p.Leu435AlafsTer22
NM_000268.4:c.1416delinsGG MANE Select NP_000259.1:p.Leu473AlafsTer22
NM_181825.3:c.1416delinsGG NP_861546.1:p.Leu473AlafsTer22
NM_181828.3:c.1290delinsGG NP_861966.1:p.Leu431AlafsTer22
NM_181829.3:c.1293delinsGG NP_861967.1:p.Leu432AlafsTer22
NM_181830.3:c.1167delinsGG NP_861968.1:p.Leu390AlafsTer22
NM_181831.3:c.1167delinsGG NP_861969.1:p.Leu390AlafsTer22
NM_181832.3:c.1416delinsGG NP_861970.1:p.Leu473AlafsTer22
NR_156186.2:n.1898delinsGG
NM_181833.3:c.448-19841delinsGG NP_861971.1:n.448-19841delinsGG