Canonical Allele Identifier: CA2215680858
Gene: CLN3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28488666_28488668delinsATG , CM000678.2:g.28488666_28488668delinsATG GRCh38
NC_000016.9:g.28499987_28499989delinsATG , CM000678.1:g.28499987_28499989delinsATG GRCh37
NC_000016.8:g.28407488_28407490delinsATG NCBI36
NG_008654.2:g.8635_8637delinsCAT , LRG_689:g.8635_8637delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.222+622_222+624delinsCAT ENSP00000329171.9:n.222+622_222+624delinsCAT
ENST00000355477.10:c.223-6_223-4delinsCAT ENSP00000347660.7:n.223-6_223-4delinsCAT
ENST00000357857.14:c.61-6_61-4delinsCAT ENSP00000350523.9:n.61-6_61-4delinsCAT
ENST00000359984.12:c.223-6_223-4delinsCAT ENSP00000353073.9:n.223-6_223-4delinsCAT
ENST00000360019.8:c.222+622_222+624delinsCAT ENSP00000353116.3:n.222+622_222+624delinsCAT
ENST00000395653.9:c.61-6_61-4delinsCAT ENSP00000379014.5:n.61-6_61-4delinsCAT
ENST00000561505.2:c.60+622_60+624delinsCAT ENSP00000457615.2:n.60+622_60+624delinsCAT
ENST00000561689.6:n.508-6_508-4delinsCAT
ENST00000565316.6:c.223-6_223-4delinsCAT ENSP00000456117.1:n.223-6_223-4delinsCAT
ENST00000565778.6:c.222+622_222+624delinsCAT ENSP00000458015.1:n.222+622_222+624delinsCAT
ENST00000566083.6:n.681-6_681-4delinsCAT
ENST00000566824.6:n.203-6_203-4delinsCAT
ENST00000567495.6:c.223-6_223-4delinsCAT ENSP00000456013.2:n.223-6_223-4delinsCAT
ENST00000567963.6:c.61-6_61-4delinsCAT ENSP00000455387.2:n.61-6_61-4delinsCAT
ENST00000568076.6:n.350-6_350-4delinsCAT
ENST00000568422.6:c.223-6_223-4delinsCAT ENSP00000455549.2:n.223-6_223-4delinsCAT
ENST00000568443.2:c.376-6_376-4delinsCAT ENSP00000454899.2:n.376-6_376-4delinsCAT
ENST00000568452.6:n.326-6_326-4delinsCAT
ENST00000568472.6:n.396-6_396-4delinsCAT
ENST00000568497.6:c.-293+622_-293+624delinsCAT ENSP00000456414.2:n.-293+622_-293+624delinsCAT
ENST00000568558.6:c.223-6_223-4delinsCAT ENSP00000455603.2:n.223-6_223-4delinsCAT
ENST00000569430.7:c.223-6_223-4delinsCAT ENSP00000454229.1:n.223-6_223-4delinsCAT
ENST00000628023.3:c.222+622_222+624delinsCAT ENSP00000486178.1:n.222+622_222+624delinsCAT
ENST00000635861.1:c.61-6_61-4delinsCAT ENSP00000490034.1:n.61-6_61-4delinsCAT
ENST00000635887.1:c.223-6_223-4delinsCAT ENSP00000490709.1:n.223-6_223-4delinsCAT
ENST00000635958.1:n.334-6_334-4delinsCAT
ENST00000635973.1:c.126-1127_126-1125delinsCAT ENSP00000490363.1:n.126-1127_126-1125delinsCAT
ENST00000636017.1:c.223-6_223-4delinsCAT ENSP00000490538.1:n.223-6_223-4delinsCAT
ENST00000636078.1:n.265-6_265-4delinsCAT
ENST00000636147.2:c.223-6_223-4delinsCAT MANE Select ENSP00000490105.1:n.223-6_223-4delinsCAT
ENST00000636172.1:c.223-6_223-4delinsCAT ENSP00000490505.1:n.223-6_223-4delinsCAT
ENST00000636228.1:c.61-6_61-4delinsCAT ENSP00000489627.1:n.61-6_61-4delinsCAT
ENST00000636503.1:c.223-6_223-4delinsCAT ENSP00000489824.1:n.223-6_223-4delinsCAT
ENST00000636766.1:c.223-6_223-4delinsCAT ENSP00000489841.1:n.223-6_223-4delinsCAT
ENST00000636839.1:n.375-6_375-4delinsCAT
ENST00000636853.1:n.299-6_299-4delinsCAT
ENST00000636866.1:c.223-6_223-4delinsCAT ENSP00000490880.1:n.223-6_223-4delinsCAT
ENST00000636977.1:n.322-6_322-4delinsCAT
ENST00000637100.1:c.223-6_223-4delinsCAT ENSP00000490394.1:n.223-6_223-4delinsCAT
ENST00000637107.1:c.376-6_376-4delinsCAT ENSP00000490248.1:n.376-6_376-4delinsCAT
ENST00000637184.1:c.223-6_223-4delinsCAT ENSP00000489952.1:n.223-6_223-4delinsCAT
ENST00000637299.1:c.*32-6_*32-4delinsCAT ENSP00000489823.1:n.*32-6_*32-4delinsCAT
ENST00000637376.1:c.223-6_223-4delinsCAT ENSP00000490758.1:n.223-6_223-4delinsCAT
ENST00000637578.1:c.61-6_61-4delinsCAT ENSP00000490206.1:n.61-6_61-4delinsCAT
ENST00000637699.1:c.223-6_223-4delinsCAT ENSP00000490049.1:n.223-6_223-4delinsCAT
ENST00000637871.1:c.223-6_223-4delinsCAT ENSP00000490670.1:n.223-6_223-4delinsCAT
ENST00000637985.1:c.*162-6_*162-4delinsCAT ENSP00000490932.1:n.*162-6_*162-4delinsCAT
ENST00000333496.13:c.222+622_222+624delinsCAT ENSP00000329171.9:n.222+622_222+624delinsCAT
ENST00000355477.9:c.223-6_223-4delinsCAT ENSP00000347660.6:n.223-6_223-4delinsCAT
ENST00000357806.11:c.223-6_223-4delinsCAT ENSP00000350457.7:n.223-6_223-4delinsCAT
ENST00000357857.13:c.61-6_61-4delinsCAT ENSP00000350523.9:n.61-6_61-4delinsCAT
ENST00000359984.11:c.61-6_61-4delinsCAT ENSP00000353073.8:n.61-6_61-4delinsCAT
ENST00000360019.6:c.223-6_223-4delinsCAT ENSP00000353116.2:n.223-6_223-4delinsCAT
ENST00000395653.8:c.3-6_3-4delinsCAT ENSP00000379014.4:n.3-6_3-4delinsCAT
ENST00000561505.1:c.3-6_3-4delinsCAT ENSP00000457615.1:n.3-6_3-4delinsCAT
ENST00000561689.5:n.144-6_144-4delinsCAT
ENST00000563874.5:n.1577-6_1577-4delinsCAT
ENST00000564574.5:n.271-6_271-4delinsCAT
ENST00000565047.1:n.114-6_114-4delinsCAT
ENST00000565140.5:c.223-6_223-4delinsCAT ENSP00000455342.1:n.223-6_223-4delinsCAT
ENST00000565316.5:c.223-6_223-4delinsCAT ENSP00000456117.1:n.223-6_223-4delinsCAT
ENST00000565688.5:c.126-1127_126-1125delinsCAT ENSP00000456122.1:n.126-1127_126-1125delinsCAT
ENST00000565778.5:c.222+622_222+624delinsCAT ENSP00000458015.1:n.222+622_222+624delinsCAT
ENST00000566057.5:c.126-927_126-925delinsCAT ENSP00000456693.1:n.126-927_126-925delinsCAT
ENST00000566083.5:n.454-6_454-4delinsCAT
ENST00000566824.5:n.352-6_352-4delinsCAT
ENST00000567495.5:c.223-6_223-4delinsCAT ENSP00000456013.1:n.223-6_223-4delinsCAT
ENST00000567963.5:c.223-6_223-4delinsCAT ENSP00000455387.1:n.223-6_223-4delinsCAT
ENST00000568076.5:n.223-6_223-4delinsCAT
ENST00000568224.4:c.60+622_60+624delinsCAT ENSP00000454253.1:n.60+622_60+624delinsCAT
ENST00000568422.5:c.3-6_3-4delinsCAT ENSP00000455549.1:n.3-6_3-4delinsCAT
ENST00000568443.1:c.376-6_376-4delinsCAT ENSP00000454899.1:n.376-6_376-4delinsCAT
ENST00000568452.5:n.223-6_223-4delinsCAT
ENST00000568472.5:n.157+622_157+624delinsCAT
ENST00000568497.5:c.222+622_222+624delinsCAT ENSP00000456414.1:n.222+622_222+624delinsCAT
ENST00000568558.5:c.61-6_61-4delinsCAT ENSP00000455603.1:n.61-6_61-4delinsCAT
ENST00000569030.5:c.223-6_223-4delinsCAT ENSP00000454680.1:n.223-6_223-4delinsCAT
ENST00000569430.5:c.223-6_223-4delinsCAT ENSP00000454229.1:n.223-6_223-4delinsCAT
ENST00000628023.2:c.222+622_222+624delinsCAT ENSP00000486178.1:n.222+622_222+624delinsCAT
ENST00000631023.2:c.223-6_223-4delinsCAT ENSP00000486616.1:n.223-6_223-4delinsCAT
NM_000086.2:c.223-6_223-4delinsCAT , LRG_689t1:c.223-6_223-4delinsCAT NP_000077.1:n.223-6_223-4delinsCAT
NM_001042432.1:c.223-6_223-4delinsCAT , LRG_689t2:c.223-6_223-4delinsCAT NP_001035897.1:n.223-6_223-4delinsCAT
NM_001286104.1:c.222+622_222+624delinsCAT NP_001273033.1:n.222+622_222+624delinsCAT
NM_001286105.1:c.3-6_3-4delinsCAT NP_001273034.1:n.3-6_3-4delinsCAT
NM_001286109.1:c.60+622_60+624delinsCAT NP_001273038.1:n.60+622_60+624delinsCAT
NM_001286110.1:c.61-6_61-4delinsCAT NP_001273039.1:n.61-6_61-4delinsCAT
NM_001042432.2:c.223-6_223-4delinsCAT MANE Select NP_001035897.1:n.223-6_223-4delinsCAT
NM_001286104.2:c.222+622_222+624delinsCAT NP_001273033.1:n.222+622_222+624delinsCAT
NM_001286105.2:c.3-6_3-4delinsCAT NP_001273034.1:n.3-6_3-4delinsCAT
NM_001286109.2:c.60+622_60+624delinsCAT NP_001273038.1:n.60+622_60+624delinsCAT
NM_001286110.2:c.61-6_61-4delinsCAT NP_001273039.1:n.61-6_61-4delinsCAT
Search 100 bp 5'
Search 100 bp 3'