Canonical Allele Identifier: CA1024929564

Gene: NF2

Linked Data

• gnomAD v3: 22-29697855-C-CATGTCCG
• gnomAD v4: 22-29697855-C-CATGTCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29697855_29697856insATGTCCG , CM000684.2:g.29697855_29697856insATGTCCG	GRCh38
NC_000022.10:g.30093844_30093845insATGTCCG , CM000684.1:g.30093844_30093845insATGTCCG	GRCh37
NC_000022.9:g.28423844_28423845insATGTCCG	NCBI36
NG_009057.1:g.99300_99301insATGTCCG , LRG_511:g.99300_99301insATGTCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*3053_*3054insATGTCCG MANE Select	ENSP00000344666.5:n.*3053_*3054insATGTCCG
ENST00000672896.1:c.*3113_*3114insATGTCCG	ENSP00000500117.1:n.*3113_*3114insATGTCCG
ENST00000338641.8:c.*3053_*3054insATGTCCG	ENSP00000344666.4:n.*3053_*3054insATGTCCG
ENST00000361452.8:c.*3113_*3114insATGTCCG	ENSP00000354897.4:n.*3113_*3114insATGTCCG
ENST00000413209.6:c.*3053_*3054insATGTCCG	ENSP00000409921.2:n.*3053_*3054insATGTCCG
NM_000268.3:c.*3053_*3054insATGTCCG , LRG_511t1:c.*3053_*3054insATGTCCG	NP_000259.1:n.*3053_*3054insATGTCCG
NM_016418.5:c.*3113_*3114insATGTCCG , LRG_511t2:c.*3113_*3114insATGTCCG	NP_057502.2:n.*3113_*3114insATGTCCG
NM_181828.2:c.*3113_*3114insATGTCCG	NP_861966.1:n.*3113_*3114insATGTCCG
NM_181829.2:c.*3113_*3114insATGTCCG	NP_861967.1:n.*3113_*3114insATGTCCG
NM_181830.2:c.*3113_*3114insATGTCCG	NP_861968.1:n.*3113_*3114insATGTCCG
NM_181832.2:c.*3128_*3129insATGTCCG	NP_861970.1:n.*3128_*3129insATGTCCG
NM_181833.2:c.*3053_*3054insATGTCCG	NP_861971.1:n.*3053_*3054insATGTCCG
NR_156186.1:n.5400_5401insATGTCCG
XM_017028810.1:c.*3113_*3114insATGTCCG	XP_016884299.1:n.*3113_*3114insATGTCCG
NM_000268.4:c.*3053_*3054insATGTCCG MANE Select	NP_000259.1:n.*3053_*3054insATGTCCG
NM_181828.3:c.*3113_*3114insATGTCCG	NP_861966.1:n.*3113_*3114insATGTCCG
NM_181829.3:c.*3113_*3114insATGTCCG	NP_861967.1:n.*3113_*3114insATGTCCG
NM_181830.3:c.*3113_*3114insATGTCCG	NP_861968.1:n.*3113_*3114insATGTCCG
NM_181832.3:c.*3128_*3129insATGTCCG	NP_861970.1:n.*3128_*3129insATGTCCG
NR_156186.2:n.5323_5324insATGTCCG
NM_181833.3:c.*3053_*3054insATGTCCG	NP_861971.1:n.*3053_*3054insATGTCCG