Canonical Allele Identifier: CA2400693972

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29698274_29698276delinsCCT , CM000684.2:g.29698274_29698276delinsCCT	GRCh38
NC_000022.10:g.30094263_30094265delinsCCT , CM000684.1:g.30094263_30094265delinsCCT	GRCh37
NC_000022.9:g.28424263_28424265delinsCCT	NCBI36
NG_009057.1:g.99719_99721delinsCCT , LRG_511:g.99719_99721delinsCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000338641.10:c.*3472_*3474delinsCCT MANE Select	ENSP00000344666.5:n.*3472_*3474delinsCCT
ENST00000672896.1:c.*3532_*3534delinsCCT	ENSP00000500117.1:n.*3532_*3534delinsCCT
ENST00000338641.8:c.*3472_*3474delinsCCT	ENSP00000344666.4:n.*3472_*3474delinsCCT
ENST00000361452.8:c.*3532_*3534delinsCCT	ENSP00000354897.4:n.*3532_*3534delinsCCT
ENST00000413209.6:c.*3472_*3474delinsCCT	ENSP00000409921.2:n.*3472_*3474delinsCCT
NM_000268.3:c.*3472_*3474delinsCCT , LRG_511t1:c.*3472_*3474delinsCCT	NP_000259.1:n.*3472_*3474delinsCCT
NM_016418.5:c.*3532_*3534delinsCCT , LRG_511t2:c.*3532_*3534delinsCCT	NP_057502.2:n.*3532_*3534delinsCCT
NM_181828.2:c.*3532_*3534delinsCCT	NP_861966.1:n.*3532_*3534delinsCCT
NM_181829.2:c.*3532_*3534delinsCCT	NP_861967.1:n.*3532_*3534delinsCCT
NM_181830.2:c.*3532_*3534delinsCCT	NP_861968.1:n.*3532_*3534delinsCCT
NM_181832.2:c.*3547_*3549delinsCCT	NP_861970.1:n.*3547_*3549delinsCCT
NM_181833.2:c.*3472_*3474delinsCCT	NP_861971.1:n.*3472_*3474delinsCCT
NR_156186.1:n.5819_5821delinsCCT
XM_017028810.1:c.*3532_*3534delinsCCT	XP_016884299.1:n.*3532_*3534delinsCCT
NM_000268.4:c.*3472_*3474delinsCCT MANE Select	NP_000259.1:n.*3472_*3474delinsCCT
NM_181828.3:c.*3532_*3534delinsCCT	NP_861966.1:n.*3532_*3534delinsCCT
NM_181829.3:c.*3532_*3534delinsCCT	NP_861967.1:n.*3532_*3534delinsCCT
NM_181830.3:c.*3532_*3534delinsCCT	NP_861968.1:n.*3532_*3534delinsCCT
NM_181832.3:c.*3547_*3549delinsCCT	NP_861970.1:n.*3547_*3549delinsCCT
NR_156186.2:n.5742_5744delinsCCT
NM_181833.3:c.*3472_*3474delinsCCT	NP_861971.1:n.*3472_*3474delinsCCT