Canonical Allele Identifier: CA2400693466

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697255_29697256delinsCT , CM000684.2:g.29697255_29697256delinsCT	GRCh38
NC_000022.10:g.30093244_30093245delinsCT , CM000684.1:g.30093244_30093245delinsCT	GRCh37
NC_000022.9:g.28423244_28423245delinsCT	NCBI36
NG_009057.1:g.98700_98701delinsCT , LRG_511:g.98700_98701delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*2453_*2454delinsCT MANE Select	ENSP00000344666.5:n.*2453_*2454delinsCT
ENST00000672461.1:c.*502-6_*502-5delinsCT	ENSP00000500919.1:n.*502-6_*502-5delinsCT
ENST00000672896.1:c.*2513_*2514delinsCT	ENSP00000500117.1:n.*2513_*2514delinsCT
ENST00000338641.8:c.*2453_*2454delinsCT	ENSP00000344666.4:n.*2453_*2454delinsCT
ENST00000361452.8:c.*2513_*2514delinsCT	ENSP00000354897.4:n.*2513_*2514delinsCT
ENST00000413209.6:c.*2453_*2454delinsCT	ENSP00000409921.2:n.*2453_*2454delinsCT
NM_000268.3:c.*2453_*2454delinsCT , LRG_511t1:c.*2453_*2454delinsCT	NP_000259.1:n.*2453_*2454delinsCT
NM_016418.5:c.*2513_*2514delinsCT , LRG_511t2:c.*2513_*2514delinsCT	NP_057502.2:n.*2513_*2514delinsCT
NM_181828.2:c.*2513_*2514delinsCT	NP_861966.1:n.*2513_*2514delinsCT
NM_181829.2:c.*2513_*2514delinsCT	NP_861967.1:n.*2513_*2514delinsCT
NM_181830.2:c.*2513_*2514delinsCT	NP_861968.1:n.*2513_*2514delinsCT
NM_181832.2:c.*2528_*2529delinsCT	NP_861970.1:n.*2528_*2529delinsCT
NM_181833.2:c.*2453_*2454delinsCT	NP_861971.1:n.*2453_*2454delinsCT
NR_156186.1:n.4800_4801delinsCT
XM_017028810.1:c.*2513_*2514delinsCT	XP_016884299.1:n.*2513_*2514delinsCT
NM_000268.4:c.*2453_*2454delinsCT MANE Select	NP_000259.1:n.*2453_*2454delinsCT
NM_181828.3:c.*2513_*2514delinsCT	NP_861966.1:n.*2513_*2514delinsCT
NM_181829.3:c.*2513_*2514delinsCT	NP_861967.1:n.*2513_*2514delinsCT
NM_181830.3:c.*2513_*2514delinsCT	NP_861968.1:n.*2513_*2514delinsCT
NM_181832.3:c.*2528_*2529delinsCT	NP_861970.1:n.*2528_*2529delinsCT
NR_156186.2:n.4723_4724delinsCT
NM_181833.3:c.*2453_*2454delinsCT	NP_861971.1:n.*2453_*2454delinsCT