Canonical Allele Identifier: CA2656033663

Gene: NF2

Linked Data

• gnomAD v4: 22-29695329-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695332del , CM000684.2:g.29695332del	GRCh38
NC_000022.10:g.30091321del , CM000684.1:g.30091321del	GRCh37
NC_000022.9:g.28421321del	NCBI36
NG_009057.1:g.96777del , LRG_511:g.96777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*530del MANE Select	ENSP00000344666.5:n.*530del
ENST00000672461.1:c.*501+89del	ENSP00000500919.1:n.*501+89del
ENST00000672896.1:c.*590del	ENSP00000500117.1:n.*590del
ENST00000338641.8:c.*530del	ENSP00000344666.4:n.*530del
ENST00000361452.8:c.*590del	ENSP00000354897.4:n.*590del
ENST00000413209.6:c.*530del	ENSP00000409921.2:n.*530del
NM_000268.3:c.*530del , LRG_511t1:c.*530del	NP_000259.1:n.*530del
NM_016418.5:c.*590del , LRG_511t2:c.*590del	NP_057502.2:n.*590del
NM_181828.2:c.*590del	NP_861966.1:n.*590del
NM_181829.2:c.*590del	NP_861967.1:n.*590del
NM_181830.2:c.*590del	NP_861968.1:n.*590del
NM_181832.2:c.*605del	NP_861970.1:n.*605del
NM_181833.2:c.*530del	NP_861971.1:n.*530del
NR_156186.1:n.2877del
XM_017028810.1:c.*590del	XP_016884299.1:n.*590del
NM_000268.4:c.*530del MANE Select	NP_000259.1:n.*530del
NM_181828.3:c.*590del	NP_861966.1:n.*590del
NM_181829.3:c.*590del	NP_861967.1:n.*590del
NM_181830.3:c.*590del	NP_861968.1:n.*590del
NM_181832.3:c.*605del	NP_861970.1:n.*605del
NR_156186.2:n.2800del
NM_181833.3:c.*530del	NP_861971.1:n.*530del