Canonical Allele Identifier: CA645601195
Gene: NF2 HGNC NCBI

Linked Data

COSMIC: COSM22459

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29678264_29678267del , CM000684.2:g.29678264_29678267del GRCh38
NC_000022.10:g.30074253_30074256del , CM000684.1:g.30074253_30074256del GRCh37
NC_000022.9:g.28404253_28404256del NCBI36
NG_009057.1:g.79709_79712del , LRG_511:g.79709_79712del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.1380_1383del ENSP00000354529.6:p.Phe462ThrfsTer7
ENST00000673312.2:c.*1009_*1012del ENSP00000500186.2:n.*1009_*1012del
ENST00000338641.10:c.1515_1518del MANE Select ENSP00000344666.5:p.Phe507ThrfsTer7
ENST00000361166.9:c.933_936del ENSP00000354529.5:p.Phe313ThrfsTer7
ENST00000672461.1:c.1515_1518del ENSP00000500919.1:p.Phe507ThrfsTer7
ENST00000672805.1:c.*1397_*1400del ENSP00000500295.1:n.*1397_*1400del
ENST00000672896.1:c.1515_1518del ENSP00000500117.1:p.Phe507ThrfsTer7
ENST00000673312.1:c.1534_1537del ENSP00000500186.1:n.1534_1537del
ENST00000334961.11:c.1266_1269del ENSP00000335652.7:p.Phe424ThrfsTer7
ENST00000338641.8:c.1515_1518del ENSP00000344666.4:p.Phe507ThrfsTer7
ENST00000353887.8:c.1266_1269del ENSP00000340626.4:p.Phe424ThrfsTer7
ENST00000361166.8:c.1515_1518del ENSP00000354529.4:p.Phe507ThrfsTer7
ENST00000361452.8:c.1392_1395del ENSP00000354897.4:p.Phe466ThrfsTer7
ENST00000361676.8:c.1389_1392del ENSP00000355183.4:p.Phe465ThrfsTer7
ENST00000397789.3:c.1515_1518del ENSP00000380891.3:p.Phe507ThrfsTer7
ENST00000403435.5:c.1428_1431del ENSP00000384029.1:p.Phe478ThrfsTer7
ENST00000403999.7:c.1515_1518del ENSP00000384797.3:p.Phe507ThrfsTer7
ENST00000413209.6:c.448-16488_448-16485del ENSP00000409921.2:n.448-16488_448-16485del
ENST00000432151.5:c.*34_*37del ENSP00000395885.1:n.*34_*37del
NM_000268.3:c.1515_1518del , LRG_511t1:c.1515_1518del NP_000259.1:p.Phe507ThrfsTer7
NM_016418.5:c.1515_1518del , LRG_511t2:c.1515_1518del NP_057502.2:p.Phe507ThrfsTer7
NM_181825.2:c.1515_1518del NP_861546.1:p.Phe507ThrfsTer7
NM_181828.2:c.1389_1392del NP_861966.1:p.Phe465ThrfsTer7
NM_181829.2:c.1392_1395del NP_861967.1:p.Phe466ThrfsTer7
NM_181830.2:c.1266_1269del NP_861968.1:p.Phe424ThrfsTer7
NM_181831.2:c.1266_1269del NP_861969.1:p.Phe424ThrfsTer7
NM_181832.2:c.1515_1518del NP_861970.1:p.Phe507ThrfsTer7
NM_181833.2:c.448-16488_448-16485del NP_861971.1:n.448-16488_448-16485del
NR_156186.1:n.2074_2077del
XM_017028809.2:c.1401_1404del XP_016884298.1:p.Phe469ThrfsTer7
XM_017028810.1:c.1401_1404del XP_016884299.1:p.Phe469ThrfsTer7
NM_000268.4:c.1515_1518del MANE Select NP_000259.1:p.Phe507ThrfsTer7
NM_181825.3:c.1515_1518del NP_861546.1:p.Phe507ThrfsTer7
NM_181828.3:c.1389_1392del NP_861966.1:p.Phe465ThrfsTer7
NM_181829.3:c.1392_1395del NP_861967.1:p.Phe466ThrfsTer7
NM_181830.3:c.1266_1269del NP_861968.1:p.Phe424ThrfsTer7
NM_181831.3:c.1266_1269del NP_861969.1:p.Phe424ThrfsTer7
NM_181832.3:c.1515_1518del NP_861970.1:p.Phe507ThrfsTer7
NR_156186.2:n.1997_2000del
NM_181833.3:c.448-16488_448-16485del NP_861971.1:n.448-16488_448-16485del