Canonical Allele Identifier: CA2215678839
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28487665_28487666delinsTA , CM000678.2:g.28487665_28487666delinsTA GRCh38
NC_000016.9:g.28498986_28498987delinsTA , CM000678.1:g.28498986_28498987delinsTA GRCh37
NC_000016.8:g.28406487_28406488delinsTA NCBI36
NG_008654.2:g.9637_9638delinsTA , LRG_689:g.9637_9638delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.298_299delinsTA ENSP00000329171.9:p.Tyr100=
ENST00000355477.10:c.370_371delinsTA ENSP00000347660.7:p.Tyr124=
ENST00000357857.14:c.208_209delinsTA ENSP00000350523.9:p.Tyr70=
ENST00000359984.12:c.370_371delinsTA ENSP00000353073.9:p.Tyr124=
ENST00000360019.8:c.298_299delinsTA ENSP00000353116.3:p.Tyr100=
ENST00000395653.9:c.133-125_133-124delinsTA ENSP00000379014.5:n.133-125_133-124delinsTA
ENST00000561505.2:c.61-125_61-124delinsTA ENSP00000457615.2:n.61-125_61-124delinsTA
ENST00000561689.6:n.655_656delinsTA
ENST00000565316.6:c.370_371delinsTA ENSP00000456117.1:p.Tyr124=
ENST00000565778.6:c.223-125_223-124delinsTA ENSP00000458015.1:n.223-125_223-124delinsTA
ENST00000566083.6:n.828_829delinsTA
ENST00000566824.6:n.350_351delinsTA
ENST00000567495.6:c.370_371delinsTA ENSP00000456013.2:p.Tyr124=
ENST00000567963.6:c.208_209delinsTA ENSP00000455387.2:p.Tyr70=
ENST00000568076.6:n.497_498delinsTA
ENST00000568422.6:c.370_371delinsTA ENSP00000455549.2:p.Tyr124=
ENST00000568443.2:c.523_524delinsTA ENSP00000454899.2:p.Tyr175=
ENST00000568452.6:n.473_474delinsTA
ENST00000568472.6:n.468-125_468-124delinsTA
ENST00000568497.6:c.-293+1624_-293+1625delinsTA ENSP00000456414.2:n.-293+1624_-293+1625delinsTA
ENST00000568558.6:c.295-125_295-124delinsTA ENSP00000455603.2:n.295-125_295-124delinsTA
ENST00000569430.7:c.370_371delinsTA ENSP00000454229.1:p.Tyr124=
ENST00000628023.3:c.222+1624_222+1625delinsTA ENSP00000486178.1:n.222+1624_222+1625delinsTA
ENST00000635861.1:c.133-125_133-124delinsTA ENSP00000490034.1:n.133-125_133-124delinsTA
ENST00000635887.1:c.370_371delinsTA ENSP00000490709.1:p.Tyr124=
ENST00000635958.1:n.481_482delinsTA
ENST00000635973.1:c.126-125_126-124delinsTA ENSP00000490363.1:n.126-125_126-124delinsTA
ENST00000636017.1:c.295-125_295-124delinsTA ENSP00000490538.1:n.295-125_295-124delinsTA
ENST00000636078.1:n.412_413delinsTA
ENST00000636147.2:c.370_371delinsTA MANE Select ENSP00000490105.1:p.Tyr124=
ENST00000636172.1:c.295-125_295-124delinsTA ENSP00000490505.1:n.295-125_295-124delinsTA
ENST00000636228.1:c.208_209delinsTA ENSP00000489627.1:p.Tyr70=
ENST00000636351.1:n.90_91delinsTA
ENST00000636503.1:c.370_371delinsTA ENSP00000489824.1:p.Tyr124=
ENST00000636766.1:c.370_371delinsTA ENSP00000489841.1:p.Tyr124=
ENST00000636839.1:n.522_523delinsTA
ENST00000636853.1:n.446_447delinsTA
ENST00000636866.1:c.370_371delinsTA ENSP00000490880.1:p.Tyr124=
ENST00000636977.1:n.1318_1319delinsTA
ENST00000637100.1:c.370_371delinsTA ENSP00000490394.1:p.Tyr124=
ENST00000637107.1:c.448-125_448-124delinsTA ENSP00000490248.1:n.448-125_448-124delinsTA
ENST00000637184.1:c.370_371delinsTA ENSP00000489952.1:p.Tyr124=
ENST00000637299.1:c.*179_*180delinsTA ENSP00000489823.1:n.*179_*180delinsTA
ENST00000637376.1:c.370_371delinsTA ENSP00000490758.1:p.Tyr124=
ENST00000637578.1:c.133-125_133-124delinsTA ENSP00000490206.1:n.133-125_133-124delinsTA
ENST00000637699.1:c.370_371delinsTA ENSP00000490049.1:p.Tyr124=
ENST00000637871.1:c.295-125_295-124delinsTA ENSP00000490670.1:n.295-125_295-124delinsTA
ENST00000637985.1:c.*309_*310delinsTA ENSP00000490932.1:n.*309_*310delinsTA
ENST00000333496.13:c.298_299delinsTA ENSP00000329171.9:p.Tyr100=
ENST00000355477.9:c.370_371delinsTA ENSP00000347660.6:p.Tyr124=
ENST00000357806.11:c.295-125_295-124delinsTA ENSP00000350457.7:n.295-125_295-124delinsTA
ENST00000357857.13:c.208_209delinsTA ENSP00000350523.9:p.Tyr70=
ENST00000359984.11:c.208_209delinsTA ENSP00000353073.8:p.Tyr70=
ENST00000360019.6:c.370_371delinsTA ENSP00000353116.2:p.Tyr124=
ENST00000395653.8:c.75-125_75-124delinsTA ENSP00000379014.4:n.75-125_75-124delinsTA
ENST00000561505.1:c.75-125_75-124delinsTA ENSP00000457615.1:n.75-125_75-124delinsTA
ENST00000561689.5:n.216-125_216-124delinsTA
ENST00000563874.5:n.1724_1725delinsTA
ENST00000564574.5:n.418_419delinsTA
ENST00000565047.1:n.186-125_186-124delinsTA
ENST00000565140.5:c.370_371delinsTA ENSP00000455342.1:p.Tyr124=
ENST00000565316.5:c.370_371delinsTA ENSP00000456117.1:p.Tyr124=
ENST00000565688.5:c.126-125_126-124delinsTA ENSP00000456122.1:n.126-125_126-124delinsTA
ENST00000565778.5:c.223-125_223-124delinsTA ENSP00000458015.1:n.223-125_223-124delinsTA
ENST00000566057.5:c.201_202delinsTA ENSP00000456693.1:p.Pro67=
ENST00000566083.5:n.601_602delinsTA
ENST00000566824.5:n.424-125_424-124delinsTA
ENST00000567495.5:c.370_371delinsTA ENSP00000456013.1:p.Tyr124=
ENST00000567963.5:c.370_371delinsTA ENSP00000455387.1:p.Tyr124=
ENST00000568076.5:n.370_371delinsTA
ENST00000568224.4:c.136_137delinsTA ENSP00000454253.1:p.Tyr46=
ENST00000568422.5:c.150_151delinsTA ENSP00000455549.1:p.Pro50=
ENST00000568443.1:c.523_524delinsTA ENSP00000454899.1:p.Tyr175=
ENST00000568452.5:n.370_371delinsTA
ENST00000568472.5:n.157+1624_157+1625delinsTA
ENST00000568497.5:c.222+1624_222+1625delinsTA ENSP00000456414.1:n.222+1624_222+1625delinsTA
ENST00000568558.5:c.133-125_133-124delinsTA ENSP00000455603.1:n.133-125_133-124delinsTA
ENST00000569030.5:c.370_371delinsTA ENSP00000454680.1:p.Tyr124=
ENST00000569430.5:c.370_371delinsTA ENSP00000454229.1:p.Tyr124=
ENST00000628023.2:c.222+1624_222+1625delinsTA ENSP00000486178.1:n.222+1624_222+1625delinsTA
ENST00000631023.2:c.370_371delinsTA ENSP00000486616.1:p.Tyr124=
NM_000086.2:c.370_371delinsTA , LRG_689t1:c.370_371delinsTA NP_000077.1:p.Tyr124=
NM_001042432.1:c.370_371delinsTA , LRG_689t2:c.370_371delinsTA NP_001035897.1:p.Tyr124=
NM_001286104.1:c.298_299delinsTA NP_001273033.1:p.Tyr100=
NM_001286105.1:c.75-125_75-124delinsTA NP_001273034.1:n.75-125_75-124delinsTA
NM_001286109.1:c.136_137delinsTA NP_001273038.1:p.Tyr46=
NM_001286110.1:c.208_209delinsTA NP_001273039.1:p.Tyr70=
NM_001042432.2:c.370_371delinsTA MANE Select NP_001035897.1:p.Tyr124=
NM_001286104.2:c.298_299delinsTA NP_001273033.1:p.Tyr100=
NM_001286105.2:c.75-125_75-124delinsTA NP_001273034.1:n.75-125_75-124delinsTA
NM_001286109.2:c.136_137delinsTA NP_001273038.1:p.Tyr46=
NM_001286110.2:c.208_209delinsTA NP_001273039.1:p.Tyr70=