Canonical Allele Identifier: CA2695197628

Gene: CLN3

Linked Data

• ClinVar Variation Id: 2680816
• ClinVar RCV Id: RCV003468456

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28487673dup , CM000678.2:g.28487673dup	GRCh38
NC_000016.9:g.28498994dup , CM000678.1:g.28498994dup	GRCh37
NC_000016.8:g.28406495dup	NCBI36
NG_008654.2:g.9630dup , LRG_689:g.9630dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000333496.14:c.291dup	ENSP00000329171.9:p.Leu98AlafsTer?
ENST00000355477.10:c.363dup	ENSP00000347660.7:p.Leu122AlafsTer?
ENST00000357857.14:c.201dup	ENSP00000350523.9:p.Leu68AlafsTer?
ENST00000359984.12:c.363dup	ENSP00000353073.9:p.Leu122AlafsTer?
ENST00000360019.8:c.291dup	ENSP00000353116.3:p.Leu98AlafsTer?
ENST00000395653.9:c.133-132dup	ENSP00000379014.5:n.133-132dup
ENST00000561505.2:c.61-132dup	ENSP00000457615.2:n.61-132dup
ENST00000561689.6:n.648dup
ENST00000565316.6:c.363dup	ENSP00000456117.1:p.Leu122AlafsTer?
ENST00000565778.6:c.223-132dup	ENSP00000458015.1:n.223-132dup
ENST00000566083.6:n.821dup
ENST00000566824.6:n.343dup
ENST00000567495.6:c.363dup	ENSP00000456013.2:p.Leu122AlafsTer?
ENST00000567963.6:c.201dup	ENSP00000455387.2:p.Leu68AlafsTer?
ENST00000568076.6:n.490dup
ENST00000568422.6:c.363dup	ENSP00000455549.2:p.Leu122AlafsTer?
ENST00000568443.2:c.516dup	ENSP00000454899.2:p.Leu173AlafsTer?
ENST00000568452.6:n.466dup
ENST00000568472.6:n.468-132dup
ENST00000568497.6:c.-293+1617dup	ENSP00000456414.2:n.-293+1617dup
ENST00000568558.6:c.295-132dup	ENSP00000455603.2:n.295-132dup
ENST00000569430.7:c.363dup	ENSP00000454229.1:p.Leu122AlafsTer?
ENST00000628023.3:c.222+1617dup	ENSP00000486178.1:n.222+1617dup
ENST00000635861.1:c.133-132dup	ENSP00000490034.1:n.133-132dup
ENST00000635887.1:c.363dup	ENSP00000490709.1:p.Leu122AlafsTer?
ENST00000635958.1:n.474dup
ENST00000635973.1:c.126-132dup	ENSP00000490363.1:n.126-132dup
ENST00000636017.1:c.295-132dup	ENSP00000490538.1:n.295-132dup
ENST00000636078.1:n.405dup
ENST00000636147.2:c.363dup MANE Select	ENSP00000490105.1:p.Leu122AlafsTer?
ENST00000636172.1:c.295-132dup	ENSP00000490505.1:n.295-132dup
ENST00000636228.1:c.201dup	ENSP00000489627.1:p.Leu68AlafsTer?
ENST00000636351.1:n.83dup
ENST00000636503.1:c.363dup	ENSP00000489824.1:p.Leu122AlafsTer?
ENST00000636766.1:c.363dup	ENSP00000489841.1:p.Leu122AlafsTer?
ENST00000636839.1:n.515dup
ENST00000636853.1:n.439dup
ENST00000636866.1:c.363dup	ENSP00000490880.1:p.Leu122AlafsTer?
ENST00000636977.1:n.1311dup
ENST00000637100.1:c.363dup	ENSP00000490394.1:p.Leu122AlafsTer?
ENST00000637107.1:c.448-132dup	ENSP00000490248.1:n.448-132dup
ENST00000637184.1:c.363dup	ENSP00000489952.1:p.Leu122AlafsTer?
ENST00000637299.1:c.*172dup	ENSP00000489823.1:n.*172dup
ENST00000637376.1:c.363dup	ENSP00000490758.1:p.Leu122AlafsTer?
ENST00000637578.1:c.133-132dup	ENSP00000490206.1:n.133-132dup
ENST00000637699.1:c.363dup	ENSP00000490049.1:p.Leu122AlafsTer?
ENST00000637871.1:c.295-132dup	ENSP00000490670.1:n.295-132dup
ENST00000637985.1:c.*302dup	ENSP00000490932.1:n.*302dup
ENST00000333496.13:c.291dup	ENSP00000329171.9:p.Leu98AlafsTer?
ENST00000355477.9:c.363dup	ENSP00000347660.6:p.Leu122AlafsTer?
ENST00000357806.11:c.295-132dup	ENSP00000350457.7:n.295-132dup
ENST00000357857.13:c.201dup	ENSP00000350523.9:p.Leu68AlafsTer?
ENST00000359984.11:c.201dup	ENSP00000353073.8:p.Leu68AlafsTer?
ENST00000360019.6:c.363dup	ENSP00000353116.2:p.Leu122AlafsTer?
ENST00000395653.8:c.75-132dup	ENSP00000379014.4:n.75-132dup
ENST00000561505.1:c.75-132dup	ENSP00000457615.1:n.75-132dup
ENST00000561689.5:n.216-132dup
ENST00000563874.5:n.1717dup
ENST00000564574.5:n.411dup
ENST00000565047.1:n.186-132dup
ENST00000565140.5:c.363dup	ENSP00000455342.1:p.Leu122AlafsTer?
ENST00000565316.5:c.363dup	ENSP00000456117.1:p.Leu122AlafsTer?
ENST00000565688.5:c.126-132dup	ENSP00000456122.1:n.126-132dup
ENST00000565778.5:c.223-132dup	ENSP00000458015.1:n.223-132dup
ENST00000566057.5:c.194dup	ENSP00000456693.1:p.Cys65TrpfsTer?
ENST00000566083.5:n.594dup
ENST00000566824.5:n.424-132dup
ENST00000567495.5:c.363dup	ENSP00000456013.1:p.Leu122AlafsTer?
ENST00000567963.5:c.363dup	ENSP00000455387.1:p.Leu122AlafsTer?
ENST00000568076.5:n.363dup
ENST00000568224.4:c.129dup	ENSP00000454253.1:p.Leu44AlafsTer?
ENST00000568422.5:c.143dup	ENSP00000455549.1:p.Cys48TrpfsTer?
ENST00000568443.1:c.516dup	ENSP00000454899.1:p.Leu173AlafsTer?
ENST00000568452.5:n.363dup
ENST00000568472.5:n.157+1617dup
ENST00000568497.5:c.222+1617dup	ENSP00000456414.1:n.222+1617dup
ENST00000568558.5:c.133-132dup	ENSP00000455603.1:n.133-132dup
ENST00000569030.5:c.363dup	ENSP00000454680.1:p.Leu122AlafsTer?
ENST00000569430.5:c.363dup	ENSP00000454229.1:p.Leu122AlafsTer?
ENST00000628023.2:c.222+1617dup	ENSP00000486178.1:n.222+1617dup
ENST00000631023.2:c.363dup	ENSP00000486616.1:p.Leu122AlafsTer?
NM_000086.2:c.363dup , LRG_689t1:c.363dup	NP_000077.1:p.Leu122AlafsTer?
NM_001042432.1:c.363dup , LRG_689t2:c.363dup	NP_001035897.1:p.Leu122AlafsTer?
NM_001286104.1:c.291dup	NP_001273033.1:p.Leu98AlafsTer?
NM_001286105.1:c.75-132dup	NP_001273034.1:n.75-132dup
NM_001286109.1:c.129dup	NP_001273038.1:p.Leu44AlafsTer?
NM_001286110.1:c.201dup	NP_001273039.1:p.Leu68AlafsTer?
NM_001042432.2:c.363dup MANE Select	NP_001035897.1:p.Leu122AlafsTer?
NM_001286104.2:c.291dup	NP_001273033.1:p.Leu98AlafsTer?
NM_001286105.2:c.75-132dup	NP_001273034.1:n.75-132dup
NM_001286109.2:c.129dup	NP_001273038.1:p.Leu44AlafsTer?
NM_001286110.2:c.201dup	NP_001273039.1:p.Leu68AlafsTer?