Canonical Allele Identifier: CA645601106
Gene: NF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29671903_29671912del , CM000684.2:g.29671903_29671912del GRCh38
NC_000022.10:g.30067892_30067901del , CM000684.1:g.30067892_30067901del GRCh37
NC_000022.9:g.28397892_28397901del NCBI36
NG_009057.1:g.73348_73357del , LRG_511:g.73348_73357del

Transcript Alleles

HGVS Amino-acid change
ENST00000361166.10:c.942_951del ENSP00000354529.6:p.Leu315Ter
ENST00000673312.2:c.*571_*580del ENSP00000500186.2:n.*571_*580del
ENST00000338641.10:c.1077_1086del MANE Select ENSP00000344666.5:p.Leu360Ter
ENST00000361166.9:c.495_504del ENSP00000354529.5:p.Leu166Ter
ENST00000672461.1:c.1077_1086del ENSP00000500919.1:p.Leu360Ter
ENST00000672805.1:c.*959_*968del ENSP00000500295.1:n.*959_*968del
ENST00000672896.1:c.1077_1086del ENSP00000500117.1:p.Leu360Ter
ENST00000673312.1:c.1096_1105del ENSP00000500186.1:n.1096_1105del
ENST00000334961.11:c.828_837del ENSP00000335652.7:p.Leu277Ter
ENST00000338641.8:c.1077_1086del ENSP00000344666.4:p.Leu360Ter
ENST00000353887.8:c.828_837del ENSP00000340626.4:p.Leu277Ter
ENST00000361166.8:c.1077_1086del ENSP00000354529.4:p.Leu360Ter
ENST00000361452.8:c.954_963del ENSP00000354897.4:p.Leu319Ter
ENST00000361676.8:c.951_960del ENSP00000355183.4:p.Leu318Ter
ENST00000397789.3:c.1077_1086del ENSP00000380891.3:p.Leu360Ter
ENST00000403435.5:c.1000-10_1000-1del ENSP00000384029.1:n.1000-10_1000-1del
ENST00000403999.7:c.1077_1086del ENSP00000384797.3:p.Leu360Ter
ENST00000413209.6:c.448-22849_448-22840del ENSP00000409921.2:n.448-22849_448-22840de...
ENST00000432151.5:c.523-2933_523-2924del ENSP00000395885.1:n.523-2933_523-2924del
NM_000268.3:c.1077_1086del , LRG_511t1:c.1077_1086del NP_000259.1:p.Leu360Ter
NM_016418.5:c.1077_1086del , LRG_511t2:c.1077_1086del NP_057502.2:p.Leu360Ter
NM_181825.2:c.1077_1086del NP_861546.1:p.Leu360Ter
NM_181828.2:c.951_960del NP_861966.1:p.Leu318Ter
NM_181829.2:c.954_963del NP_861967.1:p.Leu319Ter
NM_181830.2:c.828_837del NP_861968.1:p.Leu277Ter
NM_181831.2:c.828_837del NP_861969.1:p.Leu277Ter
NM_181832.2:c.1077_1086del NP_861970.1:p.Leu360Ter
NM_181833.2:c.448-22849_448-22840del NP_861971.1:n.448-22849_448-22840del
NR_156186.1:n.1636_1645del
XM_017028809.2:c.963_972del XP_016884298.1:p.Leu322Ter
XM_017028810.1:c.963_972del XP_016884299.1:p.Leu322Ter
NM_000268.4:c.1077_1086del MANE Select NP_000259.1:p.Leu360Ter
NM_181825.3:c.1077_1086del NP_861546.1:p.Leu360Ter
NM_181828.3:c.951_960del NP_861966.1:p.Leu318Ter
NM_181829.3:c.954_963del NP_861967.1:p.Leu319Ter
NM_181830.3:c.828_837del NP_861968.1:p.Leu277Ter
NM_181831.3:c.828_837del NP_861969.1:p.Leu277Ter
NM_181832.3:c.1077_1086del NP_861970.1:p.Leu360Ter
NR_156186.2:n.1559_1568del
NM_181833.3:c.448-22849_448-22840del NP_861971.1:n.448-22849_448-22840del