Canonical Allele Identifier: CA2400693755

Gene: NF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697850_29697853delinsGCCA , CM000684.2:g.29697850_29697853delinsGCCA	GRCh38
NC_000022.10:g.30093839_30093842delinsGCCA , CM000684.1:g.30093839_30093842delinsGCCA	GRCh37
NC_000022.9:g.28423839_28423842delinsGCCA	NCBI36
NG_009057.1:g.99295_99298delinsGCCA , LRG_511:g.99295_99298delinsGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*3048_*3051delinsGCCA MANE Select	ENSP00000344666.5:n.*3048_*3051delinsGCCA
ENST00000672896.1:c.*3108_*3111delinsGCCA	ENSP00000500117.1:n.*3108_*3111delinsGCCA
ENST00000338641.8:c.*3048_*3051delinsGCCA	ENSP00000344666.4:n.*3048_*3051delinsGCCA
ENST00000361452.8:c.*3108_*3111delinsGCCA	ENSP00000354897.4:n.*3108_*3111delinsGCCA
ENST00000413209.6:c.*3048_*3051delinsGCCA	ENSP00000409921.2:n.*3048_*3051delinsGCCA
NM_000268.3:c.*3048_*3051delinsGCCA , LRG_511t1:c.*3048_*3051delinsGCCA	NP_000259.1:n.*3048_*3051delinsGCCA
NM_016418.5:c.*3108_*3111delinsGCCA , LRG_511t2:c.*3108_*3111delinsGCCA	NP_057502.2:n.*3108_*3111delinsGCCA
NM_181828.2:c.*3108_*3111delinsGCCA	NP_861966.1:n.*3108_*3111delinsGCCA
NM_181829.2:c.*3108_*3111delinsGCCA	NP_861967.1:n.*3108_*3111delinsGCCA
NM_181830.2:c.*3108_*3111delinsGCCA	NP_861968.1:n.*3108_*3111delinsGCCA
NM_181832.2:c.*3123_*3126delinsGCCA	NP_861970.1:n.*3123_*3126delinsGCCA
NM_181833.2:c.*3048_*3051delinsGCCA	NP_861971.1:n.*3048_*3051delinsGCCA
NR_156186.1:n.5395_5398delinsGCCA
XM_017028810.1:c.*3108_*3111delinsGCCA	XP_016884299.1:n.*3108_*3111delinsGCCA
NM_000268.4:c.*3048_*3051delinsGCCA MANE Select	NP_000259.1:n.*3048_*3051delinsGCCA
NM_181828.3:c.*3108_*3111delinsGCCA	NP_861966.1:n.*3108_*3111delinsGCCA
NM_181829.3:c.*3108_*3111delinsGCCA	NP_861967.1:n.*3108_*3111delinsGCCA
NM_181830.3:c.*3108_*3111delinsGCCA	NP_861968.1:n.*3108_*3111delinsGCCA
NM_181832.3:c.*3123_*3126delinsGCCA	NP_861970.1:n.*3123_*3126delinsGCCA
NR_156186.2:n.5318_5321delinsGCCA
NM_181833.3:c.*3048_*3051delinsGCCA	NP_861971.1:n.*3048_*3051delinsGCCA