Canonical Allele Identifier: CA2632494173
Gene: CLN3 HGNC NCBI

Linked Data

gnomAD v4: 16-28489319-GGCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28489320_28489322del , CM000678.2:g.28489320_28489322del GRCh38
NC_000016.9:g.28500641_28500643del , CM000678.1:g.28500641_28500643del GRCh37
NC_000016.8:g.28408142_28408144del NCBI36
NG_008654.2:g.7981_7983del , LRG_689:g.7981_7983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.190_192del ENSP00000329171.9:p.Ser64del
ENST00000355477.10:c.190_192del ENSP00000347660.7:p.Ser64del
ENST00000357857.14:c.28_30del ENSP00000350523.9:p.Ser10del
ENST00000359984.12:c.190_192del ENSP00000353073.9:p.Ser64del
ENST00000360019.8:c.190_192del ENSP00000353116.3:p.Ser64del
ENST00000395653.9:c.28_30del ENSP00000379014.5:p.Ser10del
ENST00000561505.2:c.28_30del ENSP00000457615.2:p.Ser10del
ENST00000561689.6:n.475_477del
ENST00000565316.6:c.190_192del ENSP00000456117.1:p.Ser64del
ENST00000565778.6:c.190_192del ENSP00000458015.1:p.Ser64del
ENST00000566083.6:n.648_650del
ENST00000566824.6:n.170_172del
ENST00000567495.6:c.190_192del ENSP00000456013.2:p.Ser64del
ENST00000567963.6:c.28_30del ENSP00000455387.2:p.Ser10del
ENST00000568076.6:n.317_319del
ENST00000568422.6:c.190_192del ENSP00000455549.2:p.Ser64del
ENST00000568443.2:c.343_345del ENSP00000454899.2:p.Ser115del
ENST00000568452.6:n.293_295del
ENST00000568472.6:n.363_365del
ENST00000568497.6:c.-325_-323del ENSP00000456414.2:n.-325_-323del
ENST00000568558.6:c.190_192del ENSP00000455603.2:p.Ser64del
ENST00000569430.7:c.190_192del ENSP00000454229.1:p.Ser64del
ENST00000628023.3:c.190_192del ENSP00000486178.1:p.Ser64del
ENST00000635861.1:c.28_30del ENSP00000490034.1:p.Ser10del
ENST00000635887.1:c.190_192del ENSP00000490709.1:p.Ser64del
ENST00000635958.1:n.301_303del
ENST00000635973.1:c.126-1781_126-1779del ENSP00000490363.1:n.126-1781_126-1779del
ENST00000636017.1:c.190_192del ENSP00000490538.1:p.Ser64del
ENST00000636078.1:n.232_234del
ENST00000636147.2:c.190_192del MANE Select ENSP00000490105.1:p.Ser64del
ENST00000636172.1:c.190_192del ENSP00000490505.1:p.Ser64del
ENST00000636228.1:c.28_30del ENSP00000489627.1:p.Ser10del
ENST00000636503.1:c.190_192del ENSP00000489824.1:p.Ser64del
ENST00000636766.1:c.190_192del ENSP00000489841.1:p.Ser64del
ENST00000636839.1:n.342_344del
ENST00000636853.1:n.266_268del
ENST00000636866.1:c.190_192del ENSP00000490880.1:p.Ser64del
ENST00000636977.1:n.289_291del
ENST00000637100.1:c.190_192del ENSP00000490394.1:p.Ser64del
ENST00000637107.1:c.343_345del ENSP00000490248.1:p.Ser115del
ENST00000637184.1:c.190_192del ENSP00000489952.1:p.Ser64del
ENST00000637299.1:c.143_*1del ENSP00000489823.1:n.[c.143_*1del;Ter48SerextTer27]
ENST00000637376.1:c.190_192del ENSP00000490758.1:p.Ser64del
ENST00000637578.1:c.28_30del ENSP00000490206.1:p.Ser10del
ENST00000637699.1:c.190_192del ENSP00000490049.1:p.Ser64del
ENST00000637871.1:c.190_192del ENSP00000490670.1:p.Ser64del
ENST00000637985.1:c.*129_*131del ENSP00000490932.1:n.*129_*131del
ENST00000333496.13:c.190_192del ENSP00000329171.9:p.Ser64del
ENST00000355477.9:c.190_192del ENSP00000347660.6:p.Ser64del
ENST00000357806.11:c.190_192del ENSP00000350457.7:p.Ser64del
ENST00000357857.13:c.28_30del ENSP00000350523.9:p.Ser10del
ENST00000359984.11:c.28_30del ENSP00000353073.8:p.Ser10del
ENST00000360019.6:c.190_192del ENSP00000353116.2:p.Ser64del
ENST00000395653.8:c.-31_-29del ENSP00000379014.4:n.-31_-29del
ENST00000561505.1:c.-31_-29del ENSP00000457615.1:n.-31_-29del
ENST00000561689.5:n.111_113del
ENST00000563874.5:n.1544_1546del
ENST00000564574.5:n.238_240del
ENST00000565047.1:n.114-660_114-658del
ENST00000565140.5:c.190_192del ENSP00000455342.1:p.Ser64del
ENST00000565236.1:n.574_576del
ENST00000565316.5:c.190_192del ENSP00000456117.1:p.Ser64del
ENST00000565688.5:c.126-1781_126-1779del ENSP00000456122.1:n.126-1781_126-1779del
ENST00000565778.5:c.190_192del ENSP00000458015.1:p.Ser64del
ENST00000566057.5:c.126-1581_126-1579del ENSP00000456693.1:n.126-1581_126-1579del
ENST00000566083.5:n.421_423del
ENST00000566824.5:n.319_321del
ENST00000567495.5:c.190_192del ENSP00000456013.1:p.Ser64del
ENST00000567804.1:c.190_192del ENSP00000455365.1:p.Ser64del
ENST00000567963.5:c.190_192del ENSP00000455387.1:p.Ser64del
ENST00000568076.5:n.190_192del
ENST00000568224.4:c.28_30del ENSP00000454253.1:p.Ser10del
ENST00000568422.5:c.-31_-29del ENSP00000455549.1:n.-31_-29del
ENST00000568443.1:c.343_345del ENSP00000454899.1:p.Ser115del
ENST00000568452.5:n.190_192del
ENST00000568472.5:n.125_127del
ENST00000568497.5:c.190_192del ENSP00000456414.1:p.Ser64del
ENST00000568558.5:c.28_30del ENSP00000455603.1:p.Ser10del
ENST00000569030.5:c.190_192del ENSP00000454680.1:p.Ser64del
ENST00000569430.5:c.190_192del ENSP00000454229.1:p.Ser64del
ENST00000628023.2:c.190_192del ENSP00000486178.1:p.Ser64del
ENST00000631023.2:c.190_192del ENSP00000486616.1:p.Ser64del
NM_000086.2:c.190_192del , LRG_689t1:c.190_192del NP_000077.1:p.Ser64del
NM_001042432.1:c.190_192del , LRG_689t2:c.190_192del NP_001035897.1:p.Ser64del
NM_001286104.1:c.190_192del NP_001273033.1:p.Ser64del
NM_001286105.1:c.-31_-29del NP_001273034.1:n.-31_-29del
NM_001286109.1:c.28_30del NP_001273038.1:p.Ser10del
NM_001286110.1:c.28_30del NP_001273039.1:p.Ser10del
NM_001042432.2:c.190_192del MANE Select NP_001035897.1:p.Ser64del
NM_001286104.2:c.190_192del NP_001273033.1:p.Ser64del
NM_001286105.2:c.-31_-29del NP_001273034.1:n.-31_-29del
NM_001286109.2:c.28_30del NP_001273038.1:p.Ser10del
NM_001286110.2:c.28_30del NP_001273039.1:p.Ser10del
Search 100 bp 5'
Search 100 bp 3'