Canonical Allele Identifier: CA16041788
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370233
ClinVar RCV Id: RCV000411858
dbSNP Id: rs1057516335

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28484115dup , CM000678.2:g.28484115dup GRCh38
NC_000016.9:g.28495436dup , CM000678.1:g.28495436dup GRCh37
NC_000016.8:g.28402937dup NCBI36
NG_008654.2:g.13190dup , LRG_689:g.13190dup

Transcript Alleles

HGVS Amino-acid change
ENST00000333496.14:c.611dup ENSP00000329171.9:p.Leu206ValfsTer6
ENST00000355477.10:c.539dup ENSP00000347660.7:p.Leu182ValfsTer6
ENST00000357857.14:c.521dup ENSP00000350523.9:p.Leu176ValfsTer6
ENST00000359984.12:c.683dup ENSP00000353073.9:p.Leu230ValfsTer6
ENST00000360019.8:c.611dup ENSP00000353116.3:p.Leu206ValfsTer6
ENST00000395653.9:c.224dup ENSP00000379014.5:p.Leu77ValfsTer6
ENST00000561689.6:n.968dup
ENST00000564091.6:c.23dup ENSP00000454466.2:p.Leu10ValfsTer6
ENST00000565316.6:c.683dup ENSP00000456117.1:p.Leu230ValfsTer6
ENST00000565778.6:c.314dup ENSP00000458015.1:p.Leu107ValfsTer6
ENST00000566083.6:n.1141dup
ENST00000566824.6:n.663dup
ENST00000567495.6:c.*142dup ENSP00000456013.2:n.*142dup
ENST00000567963.6:c.521dup ENSP00000455387.2:p.Leu176ValfsTer6
ENST00000568076.6:n.810dup
ENST00000568422.6:c.466dup ENSP00000455549.2:p.Ser156PhefsTer?
ENST00000568452.6:n.786dup
ENST00000568472.6:n.559dup
ENST00000568497.6:c.-287dup ENSP00000456414.2:n.-287dup
ENST00000568558.6:c.386dup ENSP00000455603.2:p.Leu131ValfsTer6
ENST00000569430.7:c.683dup ENSP00000454229.1:p.Leu230ValfsTer6
ENST00000628023.3:c.228dup ENSP00000486178.1:p.Leu77SerfsTer27
ENST00000635861.1:c.*207dup ENSP00000490034.1:n.*207dup
ENST00000635887.1:c.683dup ENSP00000490709.1:p.Leu230ValfsTer6
ENST00000635958.1:n.794dup
ENST00000635973.1:c.434dup ENSP00000490363.1:p.Leu147ValfsTer6
ENST00000636017.1:c.*207dup ENSP00000490538.1:n.*207dup
ENST00000636078.1:n.725dup
ENST00000636147.2:c.683dup MANE Select ENSP00000490105.1:p.Leu230ValfsTer6
ENST00000636172.1:c.*207dup ENSP00000490505.1:n.*207dup
ENST00000636228.1:c.377dup ENSP00000489627.1:p.Leu128ValfsTer6
ENST00000636351.1:n.403dup
ENST00000636503.1:c.683dup ENSP00000489824.1:p.Leu230ValfsTer6
ENST00000636685.1:n.190dup
ENST00000636766.1:c.683dup ENSP00000489841.1:p.Leu230ValfsTer6
ENST00000636839.1:n.835dup
ENST00000636853.1:n.1598dup
ENST00000636866.1:c.683dup ENSP00000490880.1:p.Leu230ValfsTer6
ENST00000636907.1:n.834dup
ENST00000636977.1:n.1751dup
ENST00000637050.1:n.770dup
ENST00000637100.1:c.683dup ENSP00000490394.1:p.Leu230ValfsTer6
ENST00000637107.1:c.*207dup ENSP00000490248.1:n.*207dup
ENST00000637184.1:c.683dup ENSP00000489952.1:p.Leu230ValfsTer6
ENST00000637299.1:c.*492dup ENSP00000489823.1:n.*492dup
ENST00000637376.1:c.683dup ENSP00000490758.1:p.Leu230ValfsTer6
ENST00000637578.1:c.*207dup ENSP00000490206.1:n.*207dup
ENST00000637699.1:c.466dup ENSP00000490049.1:p.Ser156PhefsTer?
ENST00000637745.1:c.22dup
ENST00000637871.1:c.*207dup ENSP00000490670.1:n.*207dup
ENST00000333496.13:c.611dup ENSP00000329171.9:p.Leu206ValfsTer6
ENST00000355477.9:c.466dup ENSP00000347660.6:p.Ser156PhefsTer?
ENST00000357806.11:c.386dup ENSP00000350457.7:p.Leu131ValfsTer6
ENST00000357857.13:c.521dup ENSP00000350523.9:p.Leu176ValfsTer6
ENST00000359984.11:c.377dup ENSP00000353073.8:p.Leu128ValfsTer6
ENST00000360019.6:c.683dup ENSP00000353116.2:p.Leu230ValfsTer6
ENST00000395653.8:c.383dup ENSP00000379014.4:p.Leu130ValfsTer6
ENST00000561689.5:n.524dup
ENST00000563874.5:n.2037dup
ENST00000564574.5:n.731dup
ENST00000565047.1:n.277dup
ENST00000565140.5:c.466dup ENSP00000455342.1:p.Ser156PhefsTer?
ENST00000565316.5:c.683dup ENSP00000456117.1:p.Leu230ValfsTer6
ENST00000565688.5:c.434dup ENSP00000456122.1:p.Leu147ValfsTer6
ENST00000565778.5:c.314dup ENSP00000458015.1:p.Leu107ValfsTer6
ENST00000566057.5:c.297dup ENSP00000456693.1:p.Leu100SerfsTer27
ENST00000566083.5:n.914dup
ENST00000566824.5:n.732dup
ENST00000567495.5:c.466dup ENSP00000456013.1:p.Ser156PhefsTer?
ENST00000567963.5:c.683dup ENSP00000455387.1:p.Leu230ValfsTer6
ENST00000568076.5:n.466dup
ENST00000568224.4:c.449dup ENSP00000454253.1:p.Leu152ValfsTer6
ENST00000568422.5:c.319dup ENSP00000455549.1:p.Ser107PhefsTer?
ENST00000568452.5:n.683dup
ENST00000568472.5:n.163dup
ENST00000568497.5:c.228dup ENSP00000456414.1:p.Leu77SerfsTer27
ENST00000568558.5:c.224dup ENSP00000455603.1:p.Leu77ValfsTer6
ENST00000569030.5:c.461-1441dup ENSP00000454680.1:n.461-1441dup
ENST00000569430.5:c.683dup ENSP00000454229.1:p.Leu230ValfsTer6
ENST00000628023.2:c.228dup ENSP00000486178.1:p.Leu77SerfsTer27
ENST00000631023.2:c.683dup ENSP00000486616.1:p.Leu230ValfsTer6
NM_000086.2:c.683dup , LRG_689t1:c.683dup NP_000077.1:p.Leu230ValfsTer6
NM_001042432.1:c.683dup , LRG_689t2:c.683dup NP_001035897.1:p.Leu230ValfsTer6
NM_001286104.1:c.611dup NP_001273033.1:p.Leu206ValfsTer6
NM_001286105.1:c.383dup NP_001273034.1:p.Leu130ValfsTer6
NM_001286109.1:c.449dup NP_001273038.1:p.Leu152ValfsTer6
NM_001286110.1:c.521dup NP_001273039.1:p.Leu176ValfsTer6
NM_001042432.2:c.683dup MANE Select NP_001035897.1:p.Leu230ValfsTer6
NM_001286104.2:c.611dup NP_001273033.1:p.Leu206ValfsTer6
NM_001286105.2:c.383dup NP_001273034.1:p.Leu130ValfsTer6
NM_001286109.2:c.449dup NP_001273038.1:p.Leu152ValfsTer6
NM_001286110.2:c.521dup NP_001273039.1:p.Leu176ValfsTer6