Canonical Allele Identifier: CA1024927446

Gene: NF2

Linked Data

• gnomAD v3: 22-29696066-C-CTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 22-29696066-C-CTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696089_29696090insTTTTTTTTTTTTTTTTTTTTTTTT , CM000684.2:g.29696089_29696090insTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000022.10:g.30092078_30092079insTTTTTTTTTTTTTTTTTTTTTTTT , CM000684.1:g.30092078_30092079insTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000022.9:g.28422078_28422079insTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_009057.1:g.97534_97535insTTTTTTTTTTTTTTTTTTTTTTTT , LRG_511:g.97534_97535insTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000344666.5:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000672461.1:c.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000500919.1:n.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTT...
ENST00000672896.1:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000500117.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000338641.8:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000344666.4:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000361452.8:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000354897.4:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000413209.6:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000409921.2:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT
NM_000268.3:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT , LRG_511t1:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT	NP_000259.1:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT
NM_016418.5:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT , LRG_511t2:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	NP_057502.2:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181828.2:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861966.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181829.2:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861967.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181830.2:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861968.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181832.2:c.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861970.1:n.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181833.2:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861971.1:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT
NR_156186.1:n.3634_3635insTTTTTTTTTTTTTTTTTTTTTTTT
XM_017028810.1:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	XP_016884299.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
NM_000268.4:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_000259.1:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181828.3:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861966.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181829.3:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861967.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181830.3:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861968.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181832.3:c.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861970.1:n.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTT
NR_156186.2:n.3557_3558insTTTTTTTTTTTTTTTTTTTTTTTT
NM_181833.3:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT	NP_861971.1:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTT