Canonical Allele Identifier: CA2215673902

Gene: CLN3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484066_28484067delinsCT , CM000678.2:g.28484066_28484067delinsCT	GRCh38
NC_000016.9:g.28495387_28495388delinsCT , CM000678.1:g.28495387_28495388delinsCT	GRCh37
NC_000016.8:g.28402888_28402889delinsCT	NCBI36
NG_008654.2:g.13236_13237delinsAG , LRG_689:g.13236_13237delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.657_658delinsAG	ENSP00000329171.9:p.Glu219=
ENST00000355477.10:c.585_586delinsAG	ENSP00000347660.7:p.Glu195=
ENST00000357857.14:c.567_568delinsAG	ENSP00000350523.9:p.Glu189=
ENST00000359984.12:c.729_730delinsAG	ENSP00000353073.9:p.Glu243=
ENST00000360019.8:c.657_658delinsAG	ENSP00000353116.3:p.Glu219=
ENST00000395653.9:c.270_271delinsAG	ENSP00000379014.5:p.Glu90=
ENST00000561689.6:n.1014_1015delinsAG
ENST00000564091.6:c.69_70delinsAG	ENSP00000454466.2:p.Glu23=
ENST00000565316.6:c.729_730delinsAG	ENSP00000456117.1:p.Glu243=
ENST00000565778.6:c.360_361delinsAG	ENSP00000458015.1:p.Glu120=
ENST00000566083.6:n.1187_1188delinsAG
ENST00000566824.6:n.709_710delinsAG
ENST00000567963.6:c.567_568delinsAG	ENSP00000455387.2:p.Glu189=
ENST00000568076.6:n.856_857delinsAG
ENST00000568422.6:c.512_513delinsAG	ENSP00000455549.2:p.Lys171=
ENST00000568452.6:n.832_833delinsAG
ENST00000568472.6:n.605_606delinsAG
ENST00000568497.6:c.-241_-240delinsAG	ENSP00000456414.2:n.-241_-240delinsAG
ENST00000568558.6:c.432_433delinsAG	ENSP00000455603.2:p.Glu144=
ENST00000569430.7:c.729_730delinsAG	ENSP00000454229.1:p.Glu243=
ENST00000628023.3:c.*25_*26delinsAG	ENSP00000486178.1:n.*25_*26delinsAG
ENST00000635861.1:c.*253_*254delinsAG	ENSP00000490034.1:n.*253_*254delinsAG
ENST00000635887.1:c.729_730delinsAG	ENSP00000490709.1:p.Glu243=
ENST00000635958.1:n.840_841delinsAG
ENST00000635973.1:c.480_481delinsAG	ENSP00000490363.1:p.Glu160=
ENST00000636017.1:c.*253_*254delinsAG	ENSP00000490538.1:n.*253_*254delinsAG
ENST00000636078.1:n.771_772delinsAG
ENST00000636147.2:c.729_730delinsAG MANE Select	ENSP00000490105.1:p.Glu243=
ENST00000636172.1:c.*253_*254delinsAG	ENSP00000490505.1:n.*253_*254delinsAG
ENST00000636228.1:c.423_424delinsAG	ENSP00000489627.1:p.Glu141=
ENST00000636351.1:n.449_450delinsAG
ENST00000636503.1:c.729_730delinsAG	ENSP00000489824.1:p.Glu243=
ENST00000636685.1:n.236_237delinsAG
ENST00000636766.1:c.729_730delinsAG	ENSP00000489841.1:p.Glu243=
ENST00000636839.1:n.881_882delinsAG
ENST00000636853.1:n.1644_1645delinsAG
ENST00000636866.1:c.729_730delinsAG	ENSP00000490880.1:p.Glu243=
ENST00000636907.1:n.880_881delinsAG
ENST00000636977.1:n.1797_1798delinsAG
ENST00000637050.1:n.816_817delinsAG
ENST00000637100.1:c.729_730delinsAG	ENSP00000490394.1:p.Glu243=
ENST00000637107.1:c.*253_*254delinsAG	ENSP00000490248.1:n.*253_*254delinsAG
ENST00000637184.1:c.729_730delinsAG	ENSP00000489952.1:p.Glu243=
ENST00000637299.1:c.*538_*539delinsAG	ENSP00000489823.1:n.*538_*539delinsAG
ENST00000637376.1:c.729_730delinsAG	ENSP00000490758.1:p.Glu243=
ENST00000637578.1:c.*253_*254delinsAG	ENSP00000490206.1:n.*253_*254delinsAG
ENST00000637699.1:c.512_513delinsAG	ENSP00000490049.1:p.Lys171=
ENST00000637745.1:c.68_69delinsAG
ENST00000637871.1:c.*253_*254delinsAG	ENSP00000490670.1:n.*253_*254delinsAG
ENST00000333496.13:c.657_658delinsAG	ENSP00000329171.9:p.Glu219=
ENST00000355477.9:c.512_513delinsAG	ENSP00000347660.6:p.Lys171=
ENST00000357806.11:c.432_433delinsAG	ENSP00000350457.7:p.Glu144=
ENST00000357857.13:c.567_568delinsAG	ENSP00000350523.9:p.Glu189=
ENST00000359984.11:c.423_424delinsAG	ENSP00000353073.8:p.Glu141=
ENST00000360019.6:c.729_730delinsAG	ENSP00000353116.2:p.Glu243=
ENST00000395653.8:c.429_430delinsAG	ENSP00000379014.4:p.Glu143=
ENST00000561689.5:n.570_571delinsAG
ENST00000563874.5:n.2083_2084delinsAG
ENST00000564574.5:n.777_778delinsAG
ENST00000565047.1:n.323_324delinsAG
ENST00000565140.5:c.512_513delinsAG	ENSP00000455342.1:p.Lys171=
ENST00000565316.5:c.729_730delinsAG	ENSP00000456117.1:p.Glu243=
ENST00000565688.5:c.480_481delinsAG	ENSP00000456122.1:p.Glu160=
ENST00000565778.5:c.360_361delinsAG	ENSP00000458015.1:p.Glu120=
ENST00000566057.5:c.343_344delinsAG	ENSP00000456693.1:n.343_344delinsAG
ENST00000566083.5:n.960_961delinsAG
ENST00000566824.5:n.778_779delinsAG
ENST00000567495.5:c.512_513delinsAG	ENSP00000456013.1:p.Lys171=
ENST00000567963.5:c.729_730delinsAG	ENSP00000455387.1:p.Glu243=
ENST00000568076.5:n.512_513delinsAG
ENST00000568224.4:c.495_496delinsAG	ENSP00000454253.1:p.Glu165=
ENST00000568422.5:c.365_366delinsAG	ENSP00000455549.1:p.Lys122=
ENST00000568452.5:n.729_730delinsAG
ENST00000568472.5:n.209_210delinsAG
ENST00000568497.5:c.*25_*26delinsAG	ENSP00000456414.1:n.*25_*26delinsAG
ENST00000568558.5:c.270_271delinsAG	ENSP00000455603.1:p.Glu90=
ENST00000569030.5:c.461-1395_461-1394delinsAG	ENSP00000454680.1:n.461-1395_461-1394delinsAG
ENST00000569430.5:c.729_730delinsAG	ENSP00000454229.1:p.Glu243=
ENST00000628023.2:c.*25_*26delinsAG	ENSP00000486178.1:n.*25_*26delinsAG
ENST00000631023.2:c.729_730delinsAG	ENSP00000486616.1:p.Glu243=
NM_000086.2:c.729_730delinsAG , LRG_689t1:c.729_730delinsAG	NP_000077.1:p.Glu243=
NM_001042432.1:c.729_730delinsAG , LRG_689t2:c.729_730delinsAG	NP_001035897.1:p.Glu243=
NM_001286104.1:c.657_658delinsAG	NP_001273033.1:p.Glu219=
NM_001286105.1:c.429_430delinsAG	NP_001273034.1:p.Glu143=
NM_001286109.1:c.495_496delinsAG	NP_001273038.1:p.Glu165=
NM_001286110.1:c.567_568delinsAG	NP_001273039.1:p.Glu189=
NM_001042432.2:c.729_730delinsAG MANE Select	NP_001035897.1:p.Glu243=
NM_001286104.2:c.657_658delinsAG	NP_001273033.1:p.Glu219=
NM_001286105.2:c.429_430delinsAG	NP_001273034.1:p.Glu143=
NM_001286109.2:c.495_496delinsAG	NP_001273038.1:p.Glu165=
NM_001286110.2:c.567_568delinsAG	NP_001273039.1:p.Glu189=