Canonical Allele Identifier: CA2551536041
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29694880_29694887del , CM000684.2:g.29694880_29694887del GRCh38
NC_000022.10:g.30090869_30090876del , CM000684.1:g.30090869_30090876del GRCh37
NC_000022.9:g.28420869_28420876del NCBI36
NG_009057.1:g.96325_96332del , LRG_511:g.96325_96332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.*78_*85del ENSP00000354529.6:n.*78_*85del
ENST00000673312.2:c.*1360_*1367del ENSP00000500186.2:n.*1360_*1367del
ENST00000338641.10:c.*78_*85del MANE Select ENSP00000344666.5:n.*78_*85del
ENST00000361166.9:c.1284_1291del ENSP00000354529.5:n.1284_1291del
ENST00000672461.1:c.*138_*145del ENSP00000500919.1:n.*138_*145del
ENST00000672805.1:c.*1748_*1755del ENSP00000500295.1:n.*1748_*1755del
ENST00000672896.1:c.*138_*145del ENSP00000500117.1:n.*138_*145del
ENST00000673312.1:c.1885_1892del ENSP00000500186.1:n.1885_1892del
ENST00000338641.8:c.*78_*85del ENSP00000344666.4:n.*78_*85del
ENST00000361452.8:c.*138_*145del ENSP00000354897.4:n.*138_*145del
ENST00000413209.6:c.*78_*85del ENSP00000409921.2:n.*78_*85del
ENST00000432151.5:c.*222_*229del ENSP00000395885.1:n.*222_*229del
NM_000268.3:c.*78_*85del , LRG_511t1:c.*78_*85del NP_000259.1:n.*78_*85del
NM_016418.5:c.*138_*145del , LRG_511t2:c.*138_*145del NP_057502.2:n.*138_*145del
NM_181828.2:c.*138_*145del NP_861966.1:n.*138_*145del
NM_181829.2:c.*138_*145del NP_861967.1:n.*138_*145del
NM_181830.2:c.*138_*145del NP_861968.1:n.*138_*145del
NM_181832.2:c.*153_*160del NP_861970.1:n.*153_*160del
NM_181833.2:c.*78_*85del NP_861971.1:n.*78_*85del
NR_156186.1:n.2425_2432del
XM_017028809.2:c.*78_*85del XP_016884298.1:n.*78_*85del
XM_017028810.1:c.*138_*145del XP_016884299.1:n.*138_*145del
NM_000268.4:c.*78_*85del MANE Select NP_000259.1:n.*78_*85del
NM_181828.3:c.*138_*145del NP_861966.1:n.*138_*145del
NM_181829.3:c.*138_*145del NP_861967.1:n.*138_*145del
NM_181830.3:c.*138_*145del NP_861968.1:n.*138_*145del
NM_181832.3:c.*153_*160del NP_861970.1:n.*153_*160del
NR_156186.2:n.2348_2355del
NM_181833.3:c.*78_*85del NP_861971.1:n.*78_*85del