Canonical Allele Identifier: CA2215673858

Gene: CLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484055_28484057delinsGCT , CM000678.2:g.28484055_28484057delinsGCT	GRCh38
NC_000016.9:g.28495376_28495378delinsGCT , CM000678.1:g.28495376_28495378delinsGCT	GRCh37
NC_000016.8:g.28402877_28402879delinsGCT	NCBI36
NG_008654.2:g.13246_13248delinsAGC , LRG_689:g.13246_13248delinsAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.667_669delinsAGC	ENSP00000329171.9:p.Ser223=
ENST00000355477.10:c.595_597delinsAGC	ENSP00000347660.7:p.Ser199=
ENST00000357857.14:c.577_579delinsAGC	ENSP00000350523.9:p.Ser193=
ENST00000359984.12:c.739_741delinsAGC	ENSP00000353073.9:p.Ser247=
ENST00000360019.8:c.667_669delinsAGC	ENSP00000353116.3:p.Ser223=
ENST00000395653.9:c.280_282delinsAGC	ENSP00000379014.5:p.Ser94=
ENST00000561689.6:n.1024_1026delinsAGC
ENST00000564091.6:c.79_81delinsAGC	ENSP00000454466.2:p.Ser27=
ENST00000565316.6:c.739_741delinsAGC	ENSP00000456117.1:p.Ser247=
ENST00000565778.6:c.370_372delinsAGC	ENSP00000458015.1:p.Ser124=
ENST00000566083.6:n.1197_1199delinsAGC
ENST00000566824.6:n.719_721delinsAGC
ENST00000567963.6:c.577_579delinsAGC	ENSP00000455387.2:p.Ser193=
ENST00000568076.6:n.866_868delinsAGC
ENST00000568422.6:c.522_524delinsAGC	ENSP00000455549.2:p.Arg174=
ENST00000568452.6:n.842_844delinsAGC
ENST00000568472.6:n.615_617delinsAGC
ENST00000568497.6:c.-231_-229delinsAGC	ENSP00000456414.2:n.-231_-229delinsAGC
ENST00000568558.6:c.442_444delinsAGC	ENSP00000455603.2:p.Ser148=
ENST00000569430.7:c.739_741delinsAGC	ENSP00000454229.1:p.Ser247=
ENST00000628023.3:c.*35_*37delinsAGC	ENSP00000486178.1:n.*35_*37delinsAGC
ENST00000635861.1:c.*263_*265delinsAGC	ENSP00000490034.1:n.*263_*265delinsAGC
ENST00000635887.1:c.739_741delinsAGC	ENSP00000490709.1:p.Ser247=
ENST00000635958.1:n.850_852delinsAGC
ENST00000635973.1:c.490_492delinsAGC	ENSP00000490363.1:p.Ser164=
ENST00000636017.1:c.*263_*265delinsAGC	ENSP00000490538.1:n.*263_*265delinsAGC
ENST00000636078.1:n.781_783delinsAGC
ENST00000636147.2:c.739_741delinsAGC MANE Select	ENSP00000490105.1:p.Ser247=
ENST00000636172.1:c.*263_*265delinsAGC	ENSP00000490505.1:n.*263_*265delinsAGC
ENST00000636228.1:c.433_435delinsAGC	ENSP00000489627.1:p.Ser145=
ENST00000636351.1:n.459_461delinsAGC
ENST00000636503.1:c.739_741delinsAGC	ENSP00000489824.1:p.Ser247=
ENST00000636685.1:n.246_248delinsAGC
ENST00000636766.1:c.739_741delinsAGC	ENSP00000489841.1:p.Ser247=
ENST00000636839.1:n.891_893delinsAGC
ENST00000636853.1:n.1654_1656delinsAGC
ENST00000636866.1:c.739_741delinsAGC	ENSP00000490880.1:p.Ser247=
ENST00000636907.1:n.890_892delinsAGC
ENST00000636977.1:n.1807_1809delinsAGC
ENST00000637050.1:n.826_828delinsAGC
ENST00000637100.1:c.739_741delinsAGC	ENSP00000490394.1:p.Ser247=
ENST00000637107.1:c.*263_*265delinsAGC	ENSP00000490248.1:n.*263_*265delinsAGC
ENST00000637184.1:c.739_741delinsAGC	ENSP00000489952.1:p.Ser247=
ENST00000637299.1:c.*548_*550delinsAGC	ENSP00000489823.1:n.*548_*550delinsAGC
ENST00000637376.1:c.739_741delinsAGC	ENSP00000490758.1:p.Ser247=
ENST00000637578.1:c.*263_*265delinsAGC	ENSP00000490206.1:n.*263_*265delinsAGC
ENST00000637699.1:c.522_524delinsAGC	ENSP00000490049.1:p.Arg174=
ENST00000637745.1:c.78_80delinsAGC
ENST00000637871.1:c.*263_*265delinsAGC	ENSP00000490670.1:n.*263_*265delinsAGC
ENST00000333496.13:c.667_669delinsAGC	ENSP00000329171.9:p.Ser223=
ENST00000355477.9:c.522_524delinsAGC	ENSP00000347660.6:p.Arg174=
ENST00000357806.11:c.442_444delinsAGC	ENSP00000350457.7:p.Ser148=
ENST00000357857.13:c.577_579delinsAGC	ENSP00000350523.9:p.Ser193=
ENST00000359984.11:c.433_435delinsAGC	ENSP00000353073.8:p.Ser145=
ENST00000360019.6:c.739_741delinsAGC	ENSP00000353116.2:p.Ser247=
ENST00000395653.8:c.439_441delinsAGC	ENSP00000379014.4:p.Ser147=
ENST00000561689.5:n.580_582delinsAGC
ENST00000563874.5:n.2093_2095delinsAGC
ENST00000564574.5:n.787_789delinsAGC
ENST00000565047.1:n.333_335delinsAGC
ENST00000565140.5:c.522_524delinsAGC	ENSP00000455342.1:p.Arg174=
ENST00000565316.5:c.739_741delinsAGC	ENSP00000456117.1:p.Ser247=
ENST00000565688.5:c.490_492delinsAGC	ENSP00000456122.1:p.Ser164=
ENST00000565778.5:c.370_372delinsAGC	ENSP00000458015.1:p.Ser124=
ENST00000566057.5:c.353_355delinsAGC	ENSP00000456693.1:n.353_355delinsAGC
ENST00000566083.5:n.970_972delinsAGC
ENST00000566824.5:n.788_790delinsAGC
ENST00000567495.5:c.522_524delinsAGC	ENSP00000456013.1:p.Arg174=
ENST00000567963.5:c.739_741delinsAGC	ENSP00000455387.1:p.Ser247=
ENST00000568076.5:n.522_524delinsAGC
ENST00000568224.4:c.505_507delinsAGC	ENSP00000454253.1:p.Ser169=
ENST00000568422.5:c.375_377delinsAGC	ENSP00000455549.1:p.Arg125=
ENST00000568452.5:n.739_741delinsAGC
ENST00000568472.5:n.219_221delinsAGC
ENST00000568497.5:c.*35_*37delinsAGC	ENSP00000456414.1:n.*35_*37delinsAGC
ENST00000568558.5:c.280_282delinsAGC	ENSP00000455603.1:p.Ser94=
ENST00000569030.5:c.461-1385_461-1383delinsAGC	ENSP00000454680.1:n.461-1385_461-1383deli...
ENST00000569430.5:c.739_741delinsAGC	ENSP00000454229.1:p.Ser247=
ENST00000628023.2:c.*35_*37delinsAGC	ENSP00000486178.1:n.*35_*37delinsAGC
ENST00000631023.2:c.739_741delinsAGC	ENSP00000486616.1:p.Ser247=
NM_000086.2:c.739_741delinsAGC , LRG_689t1:c.739_741delinsAGC	NP_000077.1:p.Ser247=
NM_001042432.1:c.739_741delinsAGC , LRG_689t2:c.739_741delinsAGC	NP_001035897.1:p.Ser247=
NM_001286104.1:c.667_669delinsAGC	NP_001273033.1:p.Ser223=
NM_001286105.1:c.439_441delinsAGC	NP_001273034.1:p.Ser147=
NM_001286109.1:c.505_507delinsAGC	NP_001273038.1:p.Ser169=
NM_001286110.1:c.577_579delinsAGC	NP_001273039.1:p.Ser193=
NM_001042432.2:c.739_741delinsAGC MANE Select	NP_001035897.1:p.Ser247=
NM_001286104.2:c.667_669delinsAGC	NP_001273033.1:p.Ser223=
NM_001286105.2:c.439_441delinsAGC	NP_001273034.1:p.Ser147=
NM_001286109.2:c.505_507delinsAGC	NP_001273038.1:p.Ser169=
NM_001286110.2:c.577_579delinsAGC	NP_001273039.1:p.Ser193=