Canonical Allele Identifier: CA2215697908

Gene: CLN3

Linked Data

• ClinVar Variation Id: 1075948
• ClinVar RCV Id: RCV001389676 ; RCV002384553 ; RCV003469762
• dbSNP Id: rs2046109345
• gnomAD v4: 16-28482167-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28482169_28482170del , CM000678.2:g.28482169_28482170del	GRCh38
NC_000016.9:g.28493490_28493491del , CM000678.1:g.28493490_28493491del	GRCh37
NC_000016.8:g.28400991_28400992del	NCBI36
NG_008654.2:g.15134_15135del , LRG_689:g.15134_15135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.920_921del	ENSP00000329171.9:p.Phe307CysfsTer?
ENST00000355477.10:c.848_849del	ENSP00000347660.7:p.Phe283CysfsTer?
ENST00000357857.14:c.830_831del	ENSP00000350523.9:p.Phe277CysfsTer?
ENST00000359984.12:c.992_993del	ENSP00000353073.9:p.Phe331CysfsTer?
ENST00000360019.8:c.920_921del	ENSP00000353116.3:p.Phe307CysfsTer?
ENST00000395653.9:c.533_534del	ENSP00000379014.5:p.Phe178CysfsTer?
ENST00000561689.6:n.1405_1406del
ENST00000564091.6:c.332_333del	ENSP00000454466.2:p.Phe111CysfsTer?
ENST00000565316.6:c.941_942del	ENSP00000456117.1:p.Phe314CysfsTer?
ENST00000566824.6:n.1052_1053del
ENST00000567963.6:c.830_831del	ENSP00000455387.2:p.Phe277CysfsTer?
ENST00000568076.6:n.1421_1422del
ENST00000568422.6:c.*229_*230del	ENSP00000455549.2:n.*229_*230del
ENST00000568452.6:n.1223_1224del
ENST00000568497.6:c.23_24del	ENSP00000456414.2:p.Phe8CysfsTer?
ENST00000569430.7:c.992_993del	ENSP00000454229.1:p.Phe331CysfsTer?
ENST00000628023.3:c.*288_*289del	ENSP00000486178.1:n.*288_*289del
ENST00000635861.1:c.*644_*645del	ENSP00000490034.1:n.*644_*645del
ENST00000635887.1:c.992_993del	ENSP00000490709.1:p.Phe331CysfsTer?
ENST00000635958.1:n.1277_1278del
ENST00000635973.1:c.743_744del	ENSP00000490363.1:p.Phe248CysfsTer?
ENST00000636017.1:c.*516_*517del	ENSP00000490538.1:n.*516_*517del
ENST00000636078.1:n.1114_1115del
ENST00000636147.2:c.992_993del MANE Select	ENSP00000490105.1:p.Phe331CysfsTer?
ENST00000636172.1:c.*516_*517del	ENSP00000490505.1:n.*516_*517del
ENST00000636228.1:c.686_687del	ENSP00000489627.1:p.Phe229CysfsTer?
ENST00000636351.1:n.886_887del
ENST00000636503.1:c.992_993del	ENSP00000489824.1:p.Phe331CysfsTer?
ENST00000636685.1:n.673_674del
ENST00000636766.1:c.992_993del	ENSP00000489841.1:p.Phe331CysfsTer?
ENST00000636839.1:n.1366_1367del
ENST00000636853.1:n.1907_1908del
ENST00000636866.1:c.992_993del	ENSP00000490880.1:p.Phe331CysfsTer?
ENST00000636907.1:n.1143_1144del
ENST00000636977.1:n.2362_2363del
ENST00000637050.1:n.1381_1382del
ENST00000637100.1:c.941_942del	ENSP00000490394.1:p.Phe314CysfsTer?
ENST00000637107.1:c.*516_*517del	ENSP00000490248.1:n.*516_*517del
ENST00000637184.1:c.992_993del	ENSP00000489952.1:p.Phe331CysfsTer?
ENST00000637299.1:c.*801_*802del	ENSP00000489823.1:n.*801_*802del
ENST00000637376.1:c.992_993del	ENSP00000490758.1:p.Phe331CysfsTer?
ENST00000637378.1:c.164_165del	ENSP00000490831.1:p.Phe55CysfsTer25
ENST00000637578.1:c.*516_*517del	ENSP00000490206.1:n.*516_*517del
ENST00000637699.1:c.903_904del	ENSP00000490049.1:n.903_904del
ENST00000637745.1:c.331_332del
ENST00000637871.1:c.*690_*691del	ENSP00000490670.1:n.*690_*691del
ENST00000638036.1:c.154_155del
ENST00000333496.13:c.920_921del	ENSP00000329171.9:p.Phe307CysfsTer?
ENST00000355477.9:c.*229_*230del	ENSP00000347660.6:n.*229_*230del
ENST00000357806.11:c.695_696del	ENSP00000350457.7:p.Phe232CysfsTer?
ENST00000357857.13:c.830_831del	ENSP00000350523.9:p.Phe277CysfsTer?
ENST00000359984.11:c.686_687del	ENSP00000353073.8:p.Phe229CysfsTer?
ENST00000360019.6:c.992_993del	ENSP00000353116.2:p.Phe331CysfsTer?
ENST00000395653.8:c.692_693del	ENSP00000379014.4:p.Phe231CysfsTer?
ENST00000561689.5:n.961_962del
ENST00000563874.5:n.2520_2521del
ENST00000564091.5:c.81_82del
ENST00000565140.5:c.775_776del	ENSP00000455342.1:n.775_776del
ENST00000565316.5:c.941_942del	ENSP00000456117.1:p.Phe314CysfsTer?
ENST00000565354.5:n.305_306del
ENST00000566057.5:c.606_607del	ENSP00000456693.1:n.606_607del
ENST00000567963.5:c.906+308_906+309del	ENSP00000455387.1:n.906+308_906+309del
ENST00000568076.5:n.903_904del
ENST00000568224.4:c.758_759del	ENSP00000454253.1:p.Phe253CysfsTer?
ENST00000568422.5:c.*229_*230del	ENSP00000455549.1:n.*229_*230del
ENST00000568452.5:n.1120_1121del
ENST00000568472.5:n.472_473del
ENST00000568558.5:c.533_534del	ENSP00000455603.1:p.Phe178CysfsTer?
ENST00000569030.5:c.662_663del	ENSP00000454680.1:p.Phe221CysfsTer?
ENST00000569430.5:c.992_993del	ENSP00000454229.1:p.Phe331CysfsTer?
ENST00000628023.2:c.*288_*289del	ENSP00000486178.1:n.*288_*289del
ENST00000631023.2:c.906+308_906+309del	ENSP00000486616.1:n.906+308_906+309del
NM_000086.2:c.992_993del , LRG_689t1:c.992_993del	NP_000077.1:p.Phe331CysfsTer?
NM_001042432.1:c.992_993del , LRG_689t2:c.992_993del	NP_001035897.1:p.Phe331CysfsTer?
NM_001286104.1:c.920_921del	NP_001273033.1:p.Phe307CysfsTer?
NM_001286105.1:c.692_693del	NP_001273034.1:p.Phe231CysfsTer?
NM_001286109.1:c.758_759del	NP_001273038.1:p.Phe253CysfsTer?
NM_001286110.1:c.830_831del	NP_001273039.1:p.Phe277CysfsTer?
NM_001042432.2:c.992_993del MANE Select	NP_001035897.1:p.Phe331CysfsTer?
NM_001286104.2:c.920_921del	NP_001273033.1:p.Phe307CysfsTer?
NM_001286105.2:c.692_693del	NP_001273034.1:p.Phe231CysfsTer?
NM_001286109.2:c.758_759del	NP_001273038.1:p.Phe253CysfsTer?
NM_001286110.2:c.830_831del	NP_001273039.1:p.Phe277CysfsTer?