Canonical Allele Identifier: CA2656033640

Gene: NF2

Linked Data

• gnomAD v4: 22-29695320-AGGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695321_29695325del , CM000684.2:g.29695321_29695325del	GRCh38
NC_000022.10:g.30091310_30091314del , CM000684.1:g.30091310_30091314del	GRCh37
NC_000022.9:g.28421310_28421314del	NCBI36
NG_009057.1:g.96766_96770del , LRG_511:g.96766_96770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*519_*523del MANE Select	ENSP00000344666.5:n.*519_*523del
ENST00000672461.1:c.*501+78_*501+82del	ENSP00000500919.1:n.*501+78_*501+82del
ENST00000672896.1:c.*579_*583del	ENSP00000500117.1:n.*579_*583del
ENST00000338641.8:c.*519_*523del	ENSP00000344666.4:n.*519_*523del
ENST00000361452.8:c.*579_*583del	ENSP00000354897.4:n.*579_*583del
ENST00000413209.6:c.*519_*523del	ENSP00000409921.2:n.*519_*523del
NM_000268.3:c.*519_*523del , LRG_511t1:c.*519_*523del	NP_000259.1:n.*519_*523del
NM_016418.5:c.*579_*583del , LRG_511t2:c.*579_*583del	NP_057502.2:n.*579_*583del
NM_181828.2:c.*579_*583del	NP_861966.1:n.*579_*583del
NM_181829.2:c.*579_*583del	NP_861967.1:n.*579_*583del
NM_181830.2:c.*579_*583del	NP_861968.1:n.*579_*583del
NM_181832.2:c.*594_*598del	NP_861970.1:n.*594_*598del
NM_181833.2:c.*519_*523del	NP_861971.1:n.*519_*523del
NR_156186.1:n.2866_2870del
XM_017028810.1:c.*579_*583del	XP_016884299.1:n.*579_*583del
NM_000268.4:c.*519_*523del MANE Select	NP_000259.1:n.*519_*523del
NM_181828.3:c.*579_*583del	NP_861966.1:n.*579_*583del
NM_181829.3:c.*579_*583del	NP_861967.1:n.*579_*583del
NM_181830.3:c.*579_*583del	NP_861968.1:n.*579_*583del
NM_181832.3:c.*594_*598del	NP_861970.1:n.*594_*598del
NR_156186.2:n.2789_2793del
NM_181833.3:c.*519_*523del	NP_861971.1:n.*519_*523del