Canonical Allele Identifier: CA2656034120

Gene: NF2

Linked Data

• gnomAD v4: 22-29695557-AGAGGCAGGCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695561_29695571del , CM000684.2:g.29695561_29695571del	GRCh38
NC_000022.10:g.30091550_30091560del , CM000684.1:g.30091550_30091560del	GRCh37
NC_000022.9:g.28421550_28421560del	NCBI36
NG_009057.1:g.97006_97016del , LRG_511:g.97006_97016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*759_*769del MANE Select	ENSP00000344666.5:n.*759_*769del
ENST00000672461.1:c.*501+318_*501+328del	ENSP00000500919.1:n.*501+318_*501+328del
ENST00000672896.1:c.*819_*829del	ENSP00000500117.1:n.*819_*829del
ENST00000338641.8:c.*759_*769del	ENSP00000344666.4:n.*759_*769del
ENST00000361452.8:c.*819_*829del	ENSP00000354897.4:n.*819_*829del
ENST00000413209.6:c.*759_*769del	ENSP00000409921.2:n.*759_*769del
NM_000268.3:c.*759_*769del , LRG_511t1:c.*759_*769del	NP_000259.1:n.*759_*769del
NM_016418.5:c.*819_*829del , LRG_511t2:c.*819_*829del	NP_057502.2:n.*819_*829del
NM_181828.2:c.*819_*829del	NP_861966.1:n.*819_*829del
NM_181829.2:c.*819_*829del	NP_861967.1:n.*819_*829del
NM_181830.2:c.*819_*829del	NP_861968.1:n.*819_*829del
NM_181832.2:c.*834_*844del	NP_861970.1:n.*834_*844del
NM_181833.2:c.*759_*769del	NP_861971.1:n.*759_*769del
NR_156186.1:n.3106_3116del
XM_017028810.1:c.*819_*829del	XP_016884299.1:n.*819_*829del
NM_000268.4:c.*759_*769del MANE Select	NP_000259.1:n.*759_*769del
NM_181828.3:c.*819_*829del	NP_861966.1:n.*819_*829del
NM_181829.3:c.*819_*829del	NP_861967.1:n.*819_*829del
NM_181830.3:c.*819_*829del	NP_861968.1:n.*819_*829del
NM_181832.3:c.*834_*844del	NP_861970.1:n.*834_*844del
NR_156186.2:n.3029_3039del
NM_181833.3:c.*759_*769del	NP_861971.1:n.*759_*769del