Canonical Allele Identifier: CA1024929635

Gene: NF2

Linked Data

• gnomAD v3: 22-29698000-C-CCTCTCTTTTTTTTGT
• gnomAD v4: 22-29698000-C-CCTCTCTTTTTTTTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29698001_29698002insTCTCTTTTTTTTGTC , CM000684.2:g.29698001_29698002insTCTCTTTTTTTTGTC	GRCh38
NC_000022.10:g.30093990_30093991insTCTCTTTTTTTTGTC , CM000684.1:g.30093990_30093991insTCTCTTTTTTTTGTC	GRCh37
NC_000022.9:g.28423990_28423991insTCTCTTTTTTTTGTC	NCBI36
NG_009057.1:g.99446_99447insTCTCTTTTTTTTGTC , LRG_511:g.99446_99447insTCTCTTTTTTTTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.*3199_*3200insTCTCTTTTTTTTGTC MANE Select	ENSP00000344666.5:n.*3199_*3200insTCTCTTTTTTTTGTC
ENST00000672896.1:c.*3259_*3260insTCTCTTTTTTTTGTC	ENSP00000500117.1:n.*3259_*3260insTCTCTTTTTTTTGTC
ENST00000338641.8:c.*3199_*3200insTCTCTTTTTTTTGTC	ENSP00000344666.4:n.*3199_*3200insTCTCTTTTTTTTGTC
ENST00000361452.8:c.*3259_*3260insTCTCTTTTTTTTGTC	ENSP00000354897.4:n.*3259_*3260insTCTCTTTTTTTTGTC
ENST00000413209.6:c.*3199_*3200insTCTCTTTTTTTTGTC	ENSP00000409921.2:n.*3199_*3200insTCTCTTTTTTTTGTC
NM_000268.3:c.*3199_*3200insTCTCTTTTTTTTGTC , LRG_511t1:c.*3199_*3200insTCTCTTTTTTTTGTC	NP_000259.1:n.*3199_*3200insTCTCTTTTTTTTGTC
NM_016418.5:c.*3259_*3260insTCTCTTTTTTTTGTC , LRG_511t2:c.*3259_*3260insTCTCTTTTTTTTGTC	NP_057502.2:n.*3259_*3260insTCTCTTTTTTTTGTC
NM_181828.2:c.*3259_*3260insTCTCTTTTTTTTGTC	NP_861966.1:n.*3259_*3260insTCTCTTTTTTTTGTC
NM_181829.2:c.*3259_*3260insTCTCTTTTTTTTGTC	NP_861967.1:n.*3259_*3260insTCTCTTTTTTTTGTC
NM_181830.2:c.*3259_*3260insTCTCTTTTTTTTGTC	NP_861968.1:n.*3259_*3260insTCTCTTTTTTTTGTC
NM_181832.2:c.*3274_*3275insTCTCTTTTTTTTGTC	NP_861970.1:n.*3274_*3275insTCTCTTTTTTTTGTC
NM_181833.2:c.*3199_*3200insTCTCTTTTTTTTGTC	NP_861971.1:n.*3199_*3200insTCTCTTTTTTTTGTC
NR_156186.1:n.5546_5547insTCTCTTTTTTTTGTC
XM_017028810.1:c.*3259_*3260insTCTCTTTTTTTTGTC	XP_016884299.1:n.*3259_*3260insTCTCTTTTTTTTGTC
NM_000268.4:c.*3199_*3200insTCTCTTTTTTTTGTC MANE Select	NP_000259.1:n.*3199_*3200insTCTCTTTTTTTTGTC
NM_181828.3:c.*3259_*3260insTCTCTTTTTTTTGTC	NP_861966.1:n.*3259_*3260insTCTCTTTTTTTTGTC
NM_181829.3:c.*3259_*3260insTCTCTTTTTTTTGTC	NP_861967.1:n.*3259_*3260insTCTCTTTTTTTTGTC
NM_181830.3:c.*3259_*3260insTCTCTTTTTTTTGTC	NP_861968.1:n.*3259_*3260insTCTCTTTTTTTTGTC
NM_181832.3:c.*3274_*3275insTCTCTTTTTTTTGTC	NP_861970.1:n.*3274_*3275insTCTCTTTTTTTTGTC
NR_156186.2:n.5469_5470insTCTCTTTTTTTTGTC
NM_181833.3:c.*3199_*3200insTCTCTTTTTTTTGTC	NP_861971.1:n.*3199_*3200insTCTCTTTTTTTTGTC