Canonical Allele Identifier: CA2656030930

Gene: NF2

Linked Data

• gnomAD v4: 22-29654852-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29654854del , CM000684.2:g.29654854del	GRCh38
NC_000022.10:g.30050843del , CM000684.1:g.30050843del	GRCh37
NC_000022.9:g.28380843del	NCBI36
NG_009057.1:g.56299del , LRG_511:g.56299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.516+129del	ENSP00000354529.6:n.516+129del
ENST00000673312.2:c.517-121del	ENSP00000500186.2:n.517-121del
ENST00000338641.10:c.516+129del MANE Select	ENSP00000344666.5:n.516+129del
ENST00000361166.9:c.69+129del	ENSP00000354529.5:n.69+129del
ENST00000672461.1:c.516+129del	ENSP00000500919.1:n.516+129del
ENST00000672805.1:c.*398+129del	ENSP00000500295.1:n.*398+129del
ENST00000672896.1:c.516+129del	ENSP00000500117.1:n.516+129del
ENST00000673312.1:c.430-121del	ENSP00000500186.1:n.430-121del
ENST00000334961.11:c.267+129del	ENSP00000335652.7:n.267+129del
ENST00000338641.8:c.516+129del	ENSP00000344666.4:n.516+129del
ENST00000353887.8:c.267+129del	ENSP00000340626.4:n.267+129del
ENST00000361166.8:c.516+129del	ENSP00000354529.4:n.516+129del
ENST00000361452.8:c.393+129del	ENSP00000354897.4:n.393+129del
ENST00000361676.8:c.390+129del	ENSP00000355183.4:n.390+129del
ENST00000397789.3:c.516+129del	ENSP00000380891.3:n.516+129del
ENST00000403435.5:c.516+129del	ENSP00000384029.1:n.516+129del
ENST00000403999.7:c.516+129del	ENSP00000384797.3:n.516+129del
ENST00000413209.6:c.447+12569del	ENSP00000409921.2:n.447+12569del
ENST00000432151.5:c.199-6351del	ENSP00000395885.1:n.199-6351del
NM_000268.3:c.516+129del , LRG_511t1:c.516+129del	NP_000259.1:n.516+129del
NM_016418.5:c.516+129del , LRG_511t2:c.516+129del	NP_057502.2:n.516+129del
NM_181825.2:c.516+129del	NP_861546.1:n.516+129del
NM_181828.2:c.390+129del	NP_861966.1:n.390+129del
NM_181829.2:c.393+129del	NP_861967.1:n.393+129del
NM_181830.2:c.267+129del	NP_861968.1:n.267+129del
NM_181831.2:c.267+129del	NP_861969.1:n.267+129del
NM_181832.2:c.516+129del	NP_861970.1:n.516+129del
NM_181833.2:c.447+12569del	NP_861971.1:n.447+12569del
NR_156186.1:n.1075+129del
XM_017028809.2:c.402+129del	XP_016884298.1:n.402+129del
XM_017028810.1:c.402+129del	XP_016884299.1:n.402+129del
NM_000268.4:c.516+129del MANE Select	NP_000259.1:n.516+129del
NM_181825.3:c.516+129del	NP_861546.1:n.516+129del
NM_181828.3:c.390+129del	NP_861966.1:n.390+129del
NM_181829.3:c.393+129del	NP_861967.1:n.393+129del
NM_181830.3:c.267+129del	NP_861968.1:n.267+129del
NM_181831.3:c.267+129del	NP_861969.1:n.267+129del
NM_181832.3:c.516+129del	NP_861970.1:n.516+129del
NR_156186.2:n.998+129del
NM_181833.3:c.447+12569del	NP_861971.1:n.447+12569del