Canonical Allele Identifier: CA2656033615

Gene: NF2

Linked Data

• gnomAD v4: 22-29695312-TCATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29695313_29695316del , CM000684.2:g.29695313_29695316del	GRCh38
NC_000022.10:g.30091302_30091305del , CM000684.1:g.30091302_30091305del	GRCh37
NC_000022.9:g.28421302_28421305del	NCBI36
NG_009057.1:g.96758_96761del , LRG_511:g.96758_96761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*511_*514del MANE Select	ENSP00000344666.5:n.*511_*514del
ENST00000672461.1:c.*501+70_*501+73del	ENSP00000500919.1:n.*501+70_*501+73del
ENST00000672896.1:c.*571_*574del	ENSP00000500117.1:n.*571_*574del
ENST00000338641.8:c.*511_*514del	ENSP00000344666.4:n.*511_*514del
ENST00000361452.8:c.*571_*574del	ENSP00000354897.4:n.*571_*574del
ENST00000413209.6:c.*511_*514del	ENSP00000409921.2:n.*511_*514del
NM_000268.3:c.*511_*514del , LRG_511t1:c.*511_*514del	NP_000259.1:n.*511_*514del
NM_016418.5:c.*571_*574del , LRG_511t2:c.*571_*574del	NP_057502.2:n.*571_*574del
NM_181828.2:c.*571_*574del	NP_861966.1:n.*571_*574del
NM_181829.2:c.*571_*574del	NP_861967.1:n.*571_*574del
NM_181830.2:c.*571_*574del	NP_861968.1:n.*571_*574del
NM_181832.2:c.*586_*589del	NP_861970.1:n.*586_*589del
NM_181833.2:c.*511_*514del	NP_861971.1:n.*511_*514del
NR_156186.1:n.2858_2861del
XM_017028810.1:c.*571_*574del	XP_016884299.1:n.*571_*574del
NM_000268.4:c.*511_*514del MANE Select	NP_000259.1:n.*511_*514del
NM_181828.3:c.*571_*574del	NP_861966.1:n.*571_*574del
NM_181829.3:c.*571_*574del	NP_861967.1:n.*571_*574del
NM_181830.3:c.*571_*574del	NP_861968.1:n.*571_*574del
NM_181832.3:c.*586_*589del	NP_861970.1:n.*586_*589del
NR_156186.2:n.2781_2784del
NM_181833.3:c.*511_*514del	NP_861971.1:n.*511_*514del