Canonical Allele Identifier: CA2731993738
Gene: CLN3 HGNC NCBI

Linked Data

dbSNP Id: rs2141717186

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28488662_28488663insATGGCTCTGGTTTCCCGATGTCCTCTTGTGG , CM000678.2:g.28488662_28488663insATGGCTCTGGTTTCCCGATGTCCTCTTGTGG GRCh38
NC_000016.9:g.28499983_28499984insATGGCTCTGGTTTCCCGATGTCCTCTTGTGG , CM000678.1:g.28499983_28499984insATGGCTCTGGTTTCCCGATGTCCTCTTGTGG GRCh37
NC_000016.8:g.28407484_28407485insATGGCTCTGGTTTCCCGATGTCCTCTTGTGG NCBI36
NG_008654.2:g.8640_8641insCCACAAGAGGACATCGGGAAACCAGAGCCAT , LRG_689:g.8640_8641insCCACAAGAGGACATCGGGAAACCAGAGCCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000329171.9:n.222+627_222+628insCCACAAGAGGACATCGGGAAACC...
ENST00000355477.10:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000347660.7:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000357857.14:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000350523.9:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT...
ENST00000359984.12:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000353073.9:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000360019.8:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000353116.3:n.222+627_222+628insCCACAAGAGGACATCGGGAAACC...
ENST00000395653.9:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000379014.5:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT...
ENST00000561505.2:c.60+627_60+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000457615.2:n.60+627_60+628insCCACAAGAGGACATCGGGAAACCAG...
ENST00000561689.6:n.508-1_508insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000565316.6:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000456117.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000565778.6:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000458015.1:n.222+627_222+628insCCACAAGAGGACATCGGGAAACC...
ENST00000566083.6:n.681-1_681insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000566824.6:n.203-1_203insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000567495.6:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000456013.2:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000567963.6:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000455387.2:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT...
ENST00000568076.6:n.350-1_350insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000568422.6:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000455549.2:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000568443.2:c.376-1_376insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000454899.2:n.376-1_376insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000568452.6:n.326-1_326insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000568472.6:n.396-1_396insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000568497.6:c.-293+627_-293+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000456414.2:n.-293+627_-293+628insCCACAAGAGGACATCGGGAAA...
ENST00000568558.6:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000455603.2:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000569430.7:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000454229.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000628023.3:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000486178.1:n.222+627_222+628insCCACAAGAGGACATCGGGAAACC...
ENST00000635861.1:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490034.1:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT...
ENST00000635887.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490709.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000635958.1:n.334-1_334insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000635973.1:c.126-1122_126-1121insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490363.1:n.126-1122_126-1121insCCACAAGAGGACATCGGGAAA...
ENST00000636017.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490538.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000636078.1:n.265-1_265insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000636147.2:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT MANE Select ENSP00000490105.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000636172.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490505.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000636228.1:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000489627.1:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT...
ENST00000636503.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000489824.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000636766.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000489841.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000636839.1:n.375-1_375insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000636853.1:n.299-1_299insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000636866.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490880.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000636977.1:n.322-1_322insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000637100.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490394.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000637107.1:c.376-1_376insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490248.1:n.376-1_376insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000637184.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000489952.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000637299.1:c.*32-1_*32insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000489823.1:n.*32-1_*32insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000637376.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490758.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000637578.1:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490206.1:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT...
ENST00000637699.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490049.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000637871.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490670.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000637985.1:c.*162-1_*162insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000490932.1:n.*162-1_*162insCCACAAGAGGACATCGGGAAACCAGAG...
ENST00000333496.13:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000329171.9:n.222+627_222+628insCCACAAGAGGACATCGGGAAACC...
ENST00000355477.9:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000347660.6:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000357806.11:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000350457.7:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000357857.13:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000350523.9:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT...
ENST00000359984.11:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000353073.8:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT...
ENST00000360019.6:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000353116.2:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000395653.8:c.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000379014.4:n.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000561505.1:c.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000457615.1:n.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000561689.5:n.144-1_144insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000563874.5:n.1577-1_1577insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000564574.5:n.271-1_271insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000565047.1:n.114-1_114insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000565140.5:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000455342.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000565316.5:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000456117.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000565688.5:c.126-1122_126-1121insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000456122.1:n.126-1122_126-1121insCCACAAGAGGACATCGGGAAA...
ENST00000565778.5:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000458015.1:n.222+627_222+628insCCACAAGAGGACATCGGGAAACC...
ENST00000566057.5:c.126-922_126-921insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000456693.1:n.126-922_126-921insCCACAAGAGGACATCGGGAAACC...
ENST00000566083.5:n.454-1_454insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000566824.5:n.352-1_352insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000567495.5:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000456013.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000567963.5:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000455387.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000568076.5:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000568224.4:c.60+627_60+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000454253.1:n.60+627_60+628insCCACAAGAGGACATCGGGAAACCAG...
ENST00000568422.5:c.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000455549.1:n.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000568443.1:c.376-1_376insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000454899.1:n.376-1_376insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000568452.5:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000568472.5:n.157+627_157+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT
ENST00000568497.5:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000456414.1:n.222+627_222+628insCCACAAGAGGACATCGGGAAACC...
ENST00000568558.5:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000455603.1:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT...
ENST00000569030.5:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000454680.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000569430.5:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000454229.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
ENST00000628023.2:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000486178.1:n.222+627_222+628insCCACAAGAGGACATCGGGAAACC...
ENST00000631023.2:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT ENSP00000486616.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCC...
NM_000086.2:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT , LRG_689t1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_000077.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT
NM_001042432.1:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT , LRG_689t2:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_001035897.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT
NM_001286104.1:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_001273033.1:n.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGA...
NM_001286105.1:c.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_001273034.1:n.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT
NM_001286109.1:c.60+627_60+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_001273038.1:n.60+627_60+628insCCACAAGAGGACATCGGGAAACCAGAGC...
NM_001286110.1:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_001273039.1:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT
NM_001042432.2:c.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT MANE Select NP_001035897.1:n.223-1_223insCCACAAGAGGACATCGGGAAACCAGAGCCAT
NM_001286104.2:c.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_001273033.1:n.222+627_222+628insCCACAAGAGGACATCGGGAAACCAGA...
NM_001286105.2:c.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_001273034.1:n.3-1_3insCCACAAGAGGACATCGGGAAACCAGAGCCAT
NM_001286109.2:c.60+627_60+628insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_001273038.1:n.60+627_60+628insCCACAAGAGGACATCGGGAAACCAGAGC...
NM_001286110.2:c.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT NP_001273039.1:n.61-1_61insCCACAAGAGGACATCGGGAAACCAGAGCCAT