Canonical Allele Identifier: CA2400693977
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29698277_29698281delinsCTCTT , CM000684.2:g.29698277_29698281delinsCTCTT GRCh38
NC_000022.10:g.30094266_30094270delinsCTCTT , CM000684.1:g.30094266_30094270delinsCTCTT GRCh37
NC_000022.9:g.28424266_28424270delinsCTCTT NCBI36
NG_009057.1:g.99722_99726delinsCTCTT , LRG_511:g.99722_99726delinsCTCTT

Transcript Alleles

HGVS Amino-acid change
ENST00000338641.10:c.*3475_*3479delinsCTCTT MANE Select ENSP00000344666.5:n.*3475_*3479delinsCTCT...
ENST00000672896.1:c.*3535_*3539delinsCTCTT ENSP00000500117.1:n.*3535_*3539delinsCTCT...
ENST00000338641.8:c.*3475_*3479delinsCTCTT ENSP00000344666.4:n.*3475_*3479delinsCTCT...
ENST00000361452.8:c.*3535_*3539delinsCTCTT ENSP00000354897.4:n.*3535_*3539delinsCTCT...
ENST00000413209.6:c.*3475_*3479delinsCTCTT ENSP00000409921.2:n.*3475_*3479delinsCTCT...
NM_000268.3:c.*3475_*3479delinsCTCTT , LRG_511t1:c.*3475_*3479delinsCTCTT NP_000259.1:n.*3475_*3479delinsCTCTT
NM_016418.5:c.*3535_*3539delinsCTCTT , LRG_511t2:c.*3535_*3539delinsCTCTT NP_057502.2:n.*3535_*3539delinsCTCTT
NM_181828.2:c.*3535_*3539delinsCTCTT NP_861966.1:n.*3535_*3539delinsCTCTT
NM_181829.2:c.*3535_*3539delinsCTCTT NP_861967.1:n.*3535_*3539delinsCTCTT
NM_181830.2:c.*3535_*3539delinsCTCTT NP_861968.1:n.*3535_*3539delinsCTCTT
NM_181832.2:c.*3550_*3554delinsCTCTT NP_861970.1:n.*3550_*3554delinsCTCTT
NM_181833.2:c.*3475_*3479delinsCTCTT NP_861971.1:n.*3475_*3479delinsCTCTT
NR_156186.1:n.5822_5826delinsCTCTT
XM_017028810.1:c.*3535_*3539delinsCTCTT XP_016884299.1:n.*3535_*3539delinsCTCTT
NM_000268.4:c.*3475_*3479delinsCTCTT MANE Select NP_000259.1:n.*3475_*3479delinsCTCTT
NM_181828.3:c.*3535_*3539delinsCTCTT NP_861966.1:n.*3535_*3539delinsCTCTT
NM_181829.3:c.*3535_*3539delinsCTCTT NP_861967.1:n.*3535_*3539delinsCTCTT
NM_181830.3:c.*3535_*3539delinsCTCTT NP_861968.1:n.*3535_*3539delinsCTCTT
NM_181832.3:c.*3550_*3554delinsCTCTT NP_861970.1:n.*3550_*3554delinsCTCTT
NR_156186.2:n.5745_5749delinsCTCTT
NM_181833.3:c.*3475_*3479delinsCTCTT NP_861971.1:n.*3475_*3479delinsCTCTT