Canonical Allele Identifier: CA2215673871

Gene: CLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484059_28484062delinsTCTG , CM000678.2:g.28484059_28484062delinsTCTG	GRCh38
NC_000016.9:g.28495380_28495383delinsTCTG , CM000678.1:g.28495380_28495383delinsTCTG	GRCh37
NC_000016.8:g.28402881_28402884delinsTCTG	NCBI36
NG_008654.2:g.13241_13244delinsCAGA , LRG_689:g.13241_13244delinsCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.662_665delinsCAGA	ENSP00000329171.9:p.Ala221=
ENST00000355477.10:c.590_593delinsCAGA	ENSP00000347660.7:p.Ala197=
ENST00000357857.14:c.572_575delinsCAGA	ENSP00000350523.9:p.Ala191=
ENST00000359984.12:c.734_737delinsCAGA	ENSP00000353073.9:p.Ala245=
ENST00000360019.8:c.662_665delinsCAGA	ENSP00000353116.3:p.Ala221=
ENST00000395653.9:c.275_278delinsCAGA	ENSP00000379014.5:p.Ala92=
ENST00000561689.6:n.1019_1022delinsCAGA
ENST00000564091.6:c.74_77delinsCAGA	ENSP00000454466.2:p.Ala25=
ENST00000565316.6:c.734_737delinsCAGA	ENSP00000456117.1:p.Ala245=
ENST00000565778.6:c.365_368delinsCAGA	ENSP00000458015.1:p.Ala122=
ENST00000566083.6:n.1192_1195delinsCAGA
ENST00000566824.6:n.714_717delinsCAGA
ENST00000567963.6:c.572_575delinsCAGA	ENSP00000455387.2:p.Ala191=
ENST00000568076.6:n.861_864delinsCAGA
ENST00000568422.6:c.517_520delinsCAGA	ENSP00000455549.2:p.Gln173=
ENST00000568452.6:n.837_840delinsCAGA
ENST00000568472.6:n.610_613delinsCAGA
ENST00000568497.6:c.-236_-233delinsCAGA	ENSP00000456414.2:n.-236_-233delinsCAGA
ENST00000568558.6:c.437_440delinsCAGA	ENSP00000455603.2:p.Ala146=
ENST00000569430.7:c.734_737delinsCAGA	ENSP00000454229.1:p.Ala245=
ENST00000628023.3:c.*30_*33delinsCAGA	ENSP00000486178.1:n.*30_*33delinsCAGA
ENST00000635861.1:c.*258_*261delinsCAGA	ENSP00000490034.1:n.*258_*261delinsCAGA
ENST00000635887.1:c.734_737delinsCAGA	ENSP00000490709.1:p.Ala245=
ENST00000635958.1:n.845_848delinsCAGA
ENST00000635973.1:c.485_488delinsCAGA	ENSP00000490363.1:p.Ala162=
ENST00000636017.1:c.*258_*261delinsCAGA	ENSP00000490538.1:n.*258_*261delinsCAGA
ENST00000636078.1:n.776_779delinsCAGA
ENST00000636147.2:c.734_737delinsCAGA MANE Select	ENSP00000490105.1:p.Ala245=
ENST00000636172.1:c.*258_*261delinsCAGA	ENSP00000490505.1:n.*258_*261delinsCAGA
ENST00000636228.1:c.428_431delinsCAGA	ENSP00000489627.1:p.Ala143=
ENST00000636351.1:n.454_457delinsCAGA
ENST00000636503.1:c.734_737delinsCAGA	ENSP00000489824.1:p.Ala245=
ENST00000636685.1:n.241_244delinsCAGA
ENST00000636766.1:c.734_737delinsCAGA	ENSP00000489841.1:p.Ala245=
ENST00000636839.1:n.886_889delinsCAGA
ENST00000636853.1:n.1649_1652delinsCAGA
ENST00000636866.1:c.734_737delinsCAGA	ENSP00000490880.1:p.Ala245=
ENST00000636907.1:n.885_888delinsCAGA
ENST00000636977.1:n.1802_1805delinsCAGA
ENST00000637050.1:n.821_824delinsCAGA
ENST00000637100.1:c.734_737delinsCAGA	ENSP00000490394.1:p.Ala245=
ENST00000637107.1:c.*258_*261delinsCAGA	ENSP00000490248.1:n.*258_*261delinsCAGA
ENST00000637184.1:c.734_737delinsCAGA	ENSP00000489952.1:p.Ala245=
ENST00000637299.1:c.*543_*546delinsCAGA	ENSP00000489823.1:n.*543_*546delinsCAGA
ENST00000637376.1:c.734_737delinsCAGA	ENSP00000490758.1:p.Ala245=
ENST00000637578.1:c.*258_*261delinsCAGA	ENSP00000490206.1:n.*258_*261delinsCAGA
ENST00000637699.1:c.517_520delinsCAGA	ENSP00000490049.1:p.Gln173=
ENST00000637745.1:c.73_76delinsCAGA
ENST00000637871.1:c.*258_*261delinsCAGA	ENSP00000490670.1:n.*258_*261delinsCAGA
ENST00000333496.13:c.662_665delinsCAGA	ENSP00000329171.9:p.Ala221=
ENST00000355477.9:c.517_520delinsCAGA	ENSP00000347660.6:p.Gln173=
ENST00000357806.11:c.437_440delinsCAGA	ENSP00000350457.7:p.Ala146=
ENST00000357857.13:c.572_575delinsCAGA	ENSP00000350523.9:p.Ala191=
ENST00000359984.11:c.428_431delinsCAGA	ENSP00000353073.8:p.Ala143=
ENST00000360019.6:c.734_737delinsCAGA	ENSP00000353116.2:p.Ala245=
ENST00000395653.8:c.434_437delinsCAGA	ENSP00000379014.4:p.Ala145=
ENST00000561689.5:n.575_578delinsCAGA
ENST00000563874.5:n.2088_2091delinsCAGA
ENST00000564574.5:n.782_785delinsCAGA
ENST00000565047.1:n.328_331delinsCAGA
ENST00000565140.5:c.517_520delinsCAGA	ENSP00000455342.1:p.Gln173=
ENST00000565316.5:c.734_737delinsCAGA	ENSP00000456117.1:p.Ala245=
ENST00000565688.5:c.485_488delinsCAGA	ENSP00000456122.1:p.Ala162=
ENST00000565778.5:c.365_368delinsCAGA	ENSP00000458015.1:p.Ala122=
ENST00000566057.5:c.348_351delinsCAGA	ENSP00000456693.1:n.348_351delinsCAGA
ENST00000566083.5:n.965_968delinsCAGA
ENST00000566824.5:n.783_786delinsCAGA
ENST00000567495.5:c.517_520delinsCAGA	ENSP00000456013.1:p.Gln173=
ENST00000567963.5:c.734_737delinsCAGA	ENSP00000455387.1:p.Ala245=
ENST00000568076.5:n.517_520delinsCAGA
ENST00000568224.4:c.500_503delinsCAGA	ENSP00000454253.1:p.Ala167=
ENST00000568422.5:c.370_373delinsCAGA	ENSP00000455549.1:p.Gln124=
ENST00000568452.5:n.734_737delinsCAGA
ENST00000568472.5:n.214_217delinsCAGA
ENST00000568497.5:c.*30_*33delinsCAGA	ENSP00000456414.1:n.*30_*33delinsCAGA
ENST00000568558.5:c.275_278delinsCAGA	ENSP00000455603.1:p.Ala92=
ENST00000569030.5:c.461-1390_461-1387delinsCAGA	ENSP00000454680.1:n.461-1390_461-1387delinsCAGA
ENST00000569430.5:c.734_737delinsCAGA	ENSP00000454229.1:p.Ala245=
ENST00000628023.2:c.*30_*33delinsCAGA	ENSP00000486178.1:n.*30_*33delinsCAGA
ENST00000631023.2:c.734_737delinsCAGA	ENSP00000486616.1:p.Ala245=
NM_000086.2:c.734_737delinsCAGA , LRG_689t1:c.734_737delinsCAGA	NP_000077.1:p.Ala245=
NM_001042432.1:c.734_737delinsCAGA , LRG_689t2:c.734_737delinsCAGA	NP_001035897.1:p.Ala245=
NM_001286104.1:c.662_665delinsCAGA	NP_001273033.1:p.Ala221=
NM_001286105.1:c.434_437delinsCAGA	NP_001273034.1:p.Ala145=
NM_001286109.1:c.500_503delinsCAGA	NP_001273038.1:p.Ala167=
NM_001286110.1:c.572_575delinsCAGA	NP_001273039.1:p.Ala191=
NM_001042432.2:c.734_737delinsCAGA MANE Select	NP_001035897.1:p.Ala245=
NM_001286104.2:c.662_665delinsCAGA	NP_001273033.1:p.Ala221=
NM_001286105.2:c.434_437delinsCAGA	NP_001273034.1:p.Ala145=
NM_001286109.2:c.500_503delinsCAGA	NP_001273038.1:p.Ala167=
NM_001286110.2:c.572_575delinsCAGA	NP_001273039.1:p.Ala191=