Canonical Allele Identifier: CA2400668152
Gene: NF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29639133_29639136delinsACTT , CM000684.2:g.29639133_29639136delinsACTT GRCh38
NC_000022.10:g.30035122_30035125delinsACTT , CM000684.1:g.30035122_30035125delinsACTT GRCh37
NC_000022.9:g.28365122_28365125delinsACTT NCBI36
NG_009057.1:g.40578_40581delinsACTT , LRG_511:g.40578_40581delinsACTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361166.10:c.284_287delinsACTT ENSP00000354529.6:p.His95=
ENST00000673312.2:c.284_287delinsACTT ENSP00000500186.2:p.His95=
ENST00000338641.10:c.284_287delinsACTT MANE Select ENSP00000344666.5:p.His95=
ENST00000672461.1:c.284_287delinsACTT ENSP00000500919.1:p.His95=
ENST00000672805.1:c.*166_*169delinsACTT ENSP00000500295.1:n.*166_*169delinsACTT
ENST00000672896.1:c.284_287delinsACTT ENSP00000500117.1:p.His95=
ENST00000673312.1:c.197_200delinsACTT ENSP00000500186.1:p.His66=
ENST00000334961.11:c.115-3069_115-3066delinsACTT ENSP00000335652.7:n.115-3069_115-3066delinsACTT
ENST00000338641.8:c.284_287delinsACTT ENSP00000344666.4:p.His95=
ENST00000353887.8:c.115-3069_115-3066delinsACTT ENSP00000340626.4:n.115-3069_115-3066delinsACTT
ENST00000361166.8:c.284_287delinsACTT ENSP00000354529.4:p.His95=
ENST00000361452.8:c.240+2257_240+2260delinsACTT ENSP00000354897.4:n.240+2257_240+2260delinsACTT
ENST00000361676.8:c.158_161delinsACTT ENSP00000355183.4:p.His53=
ENST00000397789.3:c.284_287delinsACTT ENSP00000380891.3:p.His95=
ENST00000403435.5:c.284_287delinsACTT ENSP00000384029.1:p.His95=
ENST00000403999.7:c.284_287delinsACTT ENSP00000384797.3:p.His95=
ENST00000413209.6:c.284_287delinsACTT ENSP00000409921.2:p.His95=
ENST00000432151.5:c.115-3069_115-3066delinsACTT ENSP00000395885.1:n.115-3069_115-3066delinsACTT
NM_000268.3:c.284_287delinsACTT , LRG_511t1:c.284_287delinsACTT NP_000259.1:p.His95=
NM_016418.5:c.284_287delinsACTT , LRG_511t2:c.284_287delinsACTT NP_057502.2:p.His95=
NM_181825.2:c.284_287delinsACTT NP_861546.1:p.His95=
NM_181828.2:c.158_161delinsACTT NP_861966.1:p.His53=
NM_181829.2:c.240+2257_240+2260delinsACTT NP_861967.1:n.240+2257_240+2260delinsACTT
NM_181830.2:c.115-3069_115-3066delinsACTT NP_861968.1:n.115-3069_115-3066delinsACTT
NM_181831.2:c.115-3069_115-3066delinsACTT NP_861969.1:n.115-3069_115-3066delinsACTT
NM_181832.2:c.284_287delinsACTT NP_861970.1:p.His95=
NM_181833.2:c.284_287delinsACTT NP_861971.1:p.His95=
NR_156186.1:n.843_846delinsACTT
XM_017028809.2:c.170_173delinsACTT XP_016884298.1:p.His57=
XM_017028810.1:c.170_173delinsACTT XP_016884299.1:p.His57=
NM_000268.4:c.284_287delinsACTT MANE Select NP_000259.1:p.His95=
NM_181825.3:c.284_287delinsACTT NP_861546.1:p.His95=
NM_181828.3:c.158_161delinsACTT NP_861966.1:p.His53=
NM_181829.3:c.240+2257_240+2260delinsACTT NP_861967.1:n.240+2257_240+2260delinsACTT
NM_181830.3:c.115-3069_115-3066delinsACTT NP_861968.1:n.115-3069_115-3066delinsACTT
NM_181831.3:c.115-3069_115-3066delinsACTT NP_861969.1:n.115-3069_115-3066delinsACTT
NM_181832.3:c.284_287delinsACTT NP_861970.1:p.His95=
NR_156186.2:n.766_769delinsACTT
NM_181833.3:c.284_287delinsACTT NP_861971.1:p.His95=