Canonical Allele Identifier: CA2656037175

Gene: NF2

Linked Data

• gnomAD v4: 22-29698105-GTTCATCCTGATCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29698106_29698119del , CM000684.2:g.29698106_29698119del	GRCh38
NC_000022.10:g.30094095_30094108del , CM000684.1:g.30094095_30094108del	GRCh37
NC_000022.9:g.28424095_28424108del	NCBI36
NG_009057.1:g.99551_99564del , LRG_511:g.99551_99564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*3304_*3317del MANE Select	ENSP00000344666.5:n.*3304_*3317del
ENST00000672896.1:c.*3364_*3377del	ENSP00000500117.1:n.*3364_*3377del
ENST00000338641.8:c.*3304_*3317del	ENSP00000344666.4:n.*3304_*3317del
ENST00000361452.8:c.*3364_*3377del	ENSP00000354897.4:n.*3364_*3377del
ENST00000413209.6:c.*3304_*3317del	ENSP00000409921.2:n.*3304_*3317del
NM_000268.3:c.*3304_*3317del , LRG_511t1:c.*3304_*3317del	NP_000259.1:n.*3304_*3317del
NM_016418.5:c.*3364_*3377del , LRG_511t2:c.*3364_*3377del	NP_057502.2:n.*3364_*3377del
NM_181828.2:c.*3364_*3377del	NP_861966.1:n.*3364_*3377del
NM_181829.2:c.*3364_*3377del	NP_861967.1:n.*3364_*3377del
NM_181830.2:c.*3364_*3377del	NP_861968.1:n.*3364_*3377del
NM_181832.2:c.*3379_*3392del	NP_861970.1:n.*3379_*3392del
NM_181833.2:c.*3304_*3317del	NP_861971.1:n.*3304_*3317del
NR_156186.1:n.5651_5664del
XM_017028810.1:c.*3364_*3377del	XP_016884299.1:n.*3364_*3377del
NM_000268.4:c.*3304_*3317del MANE Select	NP_000259.1:n.*3304_*3317del
NM_181828.3:c.*3364_*3377del	NP_861966.1:n.*3364_*3377del
NM_181829.3:c.*3364_*3377del	NP_861967.1:n.*3364_*3377del
NM_181830.3:c.*3364_*3377del	NP_861968.1:n.*3364_*3377del
NM_181832.3:c.*3379_*3392del	NP_861970.1:n.*3379_*3392del
NR_156186.2:n.5574_5587del
NM_181833.3:c.*3304_*3317del	NP_861971.1:n.*3304_*3317del