Canonical Allele Identifier: CA2632489690

Gene: CLN3

Linked Data

• gnomAD v4: 16-28482500-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482502del , CM000678.2:g.28482502del	GRCh38
NC_000016.9:g.28493823del , CM000678.1:g.28493823del	GRCh37
NC_000016.8:g.28401324del	NCBI36
NG_008654.2:g.14802del , LRG_689:g.14802del

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.810del	ENSP00000329171.9:p.Glu271SerfsTer19
ENST00000355477.10:c.738del	ENSP00000347660.7:p.Glu247SerfsTer19
ENST00000357857.14:c.720del	ENSP00000350523.9:p.Glu241SerfsTer19
ENST00000359984.12:c.882del	ENSP00000353073.9:p.Glu295SerfsTer19
ENST00000360019.8:c.810del	ENSP00000353116.3:p.Glu271SerfsTer19
ENST00000395653.9:c.423del	ENSP00000379014.5:p.Glu142SerfsTer19
ENST00000561689.6:n.1167del
ENST00000564091.6:c.222del	ENSP00000454466.2:p.Glu75SerfsTer19
ENST00000565316.6:c.855+107del	ENSP00000456117.1:n.855+107del
ENST00000566824.6:n.942del
ENST00000567963.6:c.720del	ENSP00000455387.2:p.Glu241SerfsTer19
ENST00000568076.6:n.1089del
ENST00000568422.6:c.*119del	ENSP00000455549.2:n.*119del
ENST00000568452.6:n.985del
ENST00000568472.6:n.838del
ENST00000568497.6:c.-88del	ENSP00000456414.2:n.-88del
ENST00000569430.7:c.882del	ENSP00000454229.1:p.Glu295SerfsTer19
ENST00000628023.3:c.*178del	ENSP00000486178.1:n.*178del
ENST00000635861.1:c.*406del	ENSP00000490034.1:n.*406del
ENST00000635887.1:c.882del	ENSP00000490709.1:p.Glu295SerfsTer19
ENST00000635958.1:n.1073del
ENST00000635973.1:c.633del	ENSP00000490363.1:p.Glu212SerfsTer19
ENST00000636017.1:c.*406del	ENSP00000490538.1:n.*406del
ENST00000636078.1:n.1004del
ENST00000636147.2:c.882del MANE Select	ENSP00000490105.1:p.Glu295SerfsTer19
ENST00000636172.1:c.*406del	ENSP00000490505.1:n.*406del
ENST00000636228.1:c.576del	ENSP00000489627.1:p.Glu193SerfsTer19
ENST00000636351.1:n.682del
ENST00000636503.1:c.882del	ENSP00000489824.1:p.Glu295SerfsTer19
ENST00000636685.1:n.469del
ENST00000636766.1:c.882del	ENSP00000489841.1:p.Glu295SerfsTer19
ENST00000636839.1:n.1034del
ENST00000636853.1:n.1797del
ENST00000636866.1:c.882del	ENSP00000490880.1:p.Glu295SerfsTer19
ENST00000636907.1:n.1033del
ENST00000636977.1:n.2030del
ENST00000637050.1:n.1049del
ENST00000637100.1:c.855+107del	ENSP00000490394.1:n.855+107del
ENST00000637107.1:c.*406del	ENSP00000490248.1:n.*406del
ENST00000637184.1:c.882del	ENSP00000489952.1:p.Glu295SerfsTer19
ENST00000637299.1:c.*691del	ENSP00000489823.1:n.*691del
ENST00000637376.1:c.882del	ENSP00000490758.1:p.Glu295SerfsTer19
ENST00000637378.1:c.54del	ENSP00000490831.1:p.Glu19SerfsTer19
ENST00000637578.1:c.*406del	ENSP00000490206.1:n.*406del
ENST00000637699.1:c.665del	ENSP00000490049.1:n.665del
ENST00000637745.1:c.221del
ENST00000637871.1:c.*486del	ENSP00000490670.1:n.*486del
ENST00000638036.1:c.44del
ENST00000333496.13:c.810del	ENSP00000329171.9:p.Glu271SerfsTer19
ENST00000355477.9:c.*119del	ENSP00000347660.6:n.*119del
ENST00000357806.11:c.585del	ENSP00000350457.7:p.Glu196SerfsTer19
ENST00000357857.13:c.720del	ENSP00000350523.9:p.Glu241SerfsTer19
ENST00000359984.11:c.576del	ENSP00000353073.8:p.Glu193SerfsTer19
ENST00000360019.6:c.882del	ENSP00000353116.2:p.Glu295SerfsTer19
ENST00000395653.8:c.582del	ENSP00000379014.4:p.Glu195SerfsTer19
ENST00000561689.5:n.723del
ENST00000563874.5:n.2316del
ENST00000564574.5:n.930del
ENST00000565140.5:c.665del	ENSP00000455342.1:n.665del
ENST00000565316.5:c.855+107del	ENSP00000456117.1:n.855+107del
ENST00000565354.5:n.101del
ENST00000566057.5:c.496del	ENSP00000456693.1:n.496del
ENST00000567495.5:c.*119del	ENSP00000456013.1:n.*119del
ENST00000567963.5:c.882del	ENSP00000455387.1:p.Glu295SerfsTer?
ENST00000568076.5:n.665del
ENST00000568224.4:c.648del	ENSP00000454253.1:p.Glu217SerfsTer19
ENST00000568422.5:c.*119del	ENSP00000455549.1:n.*119del
ENST00000568452.5:n.882del
ENST00000568472.5:n.362del
ENST00000568497.5:c.*178del	ENSP00000456414.1:n.*178del
ENST00000568558.5:c.423del	ENSP00000455603.1:p.Glu142SerfsTer19
ENST00000569030.5:c.552del	ENSP00000454680.1:p.Glu185SerfsTer19
ENST00000569430.5:c.882del	ENSP00000454229.1:p.Glu295SerfsTer19
ENST00000628023.2:c.*178del	ENSP00000486178.1:n.*178del
ENST00000631023.2:c.882del	ENSP00000486616.1:p.Glu295SerfsTer?
NM_000086.2:c.882del , LRG_689t1:c.882del	NP_000077.1:p.Glu295SerfsTer19
NM_001042432.1:c.882del , LRG_689t2:c.882del	NP_001035897.1:p.Glu295SerfsTer19
NM_001286104.1:c.810del	NP_001273033.1:p.Glu271SerfsTer19
NM_001286105.1:c.582del	NP_001273034.1:p.Glu195SerfsTer19
NM_001286109.1:c.648del	NP_001273038.1:p.Glu217SerfsTer19
NM_001286110.1:c.720del	NP_001273039.1:p.Glu241SerfsTer19
NM_001042432.2:c.882del MANE Select	NP_001035897.1:p.Glu295SerfsTer19
NM_001286104.2:c.810del	NP_001273033.1:p.Glu271SerfsTer19
NM_001286105.2:c.582del	NP_001273034.1:p.Glu195SerfsTer19
NM_001286109.2:c.648del	NP_001273038.1:p.Glu217SerfsTer19
NM_001286110.2:c.720del	NP_001273039.1:p.Glu241SerfsTer19