Canonical Allele Identifier: CA313823

Gene: CLN3

Linked Data

• ClinVar Variation Id: 205115
• ClinVar RCV Id: RCV000187038 ; RCV000538766 ; RCV001785505
• dbSNP Id: rs776966610
• ExAC: 16:28495380 TCTG / T
• gnomAD v2: 16-28495380-TCTG-T
• gnomAD v3: 16-28484059-TCTG-T
• gnomAD v4: 16-28484059-TCTG-T
• MyVariant Identifiers: chr16:g.28495381_28495383del (hg19) ; chr16:g.28484061_28484063del (hg38) ; chr16:g.28484060_28484062del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484062_28484064del , CM000678.2:g.28484062_28484064del	GRCh38
NC_000016.9:g.28495383_28495385del , CM000678.1:g.28495383_28495385del	GRCh37
NC_000016.8:g.28402884_28402886del	NCBI36
NG_008654.2:g.13241_13243del , LRG_689:g.13241_13243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.662_664del	ENSP00000329171.9:p.Ala221del
ENST00000355477.10:c.590_592del	ENSP00000347660.7:p.Ala197del
ENST00000357857.14:c.572_574del	ENSP00000350523.9:p.Ala191del
ENST00000359984.12:c.734_736del	ENSP00000353073.9:p.Ala245del
ENST00000360019.8:c.662_664del	ENSP00000353116.3:p.Ala221del
ENST00000395653.9:c.275_277del	ENSP00000379014.5:p.Ala92del
ENST00000561689.6:n.1019_1021del
ENST00000564091.6:c.74_76del	ENSP00000454466.2:p.Ala25del
ENST00000565316.6:c.734_736del	ENSP00000456117.1:p.Ala245del
ENST00000565778.6:c.365_367del	ENSP00000458015.1:p.Ala122del
ENST00000566083.6:n.1192_1194del
ENST00000566824.6:n.714_716del
ENST00000567963.6:c.572_574del	ENSP00000455387.2:p.Ala191del
ENST00000568076.6:n.861_863del
ENST00000568422.6:c.517_519del	ENSP00000455549.2:p.Gln173del
ENST00000568452.6:n.837_839del
ENST00000568472.6:n.610_612del
ENST00000568497.6:c.-236_-234del	ENSP00000456414.2:n.-236_-234del
ENST00000568558.6:c.437_439del	ENSP00000455603.2:p.Ala146del
ENST00000569430.7:c.734_736del	ENSP00000454229.1:p.Ala245del
ENST00000628023.3:c.*30_*32del	ENSP00000486178.1:n.*30_*32del
ENST00000635861.1:c.*258_*260del	ENSP00000490034.1:n.*258_*260del
ENST00000635887.1:c.734_736del	ENSP00000490709.1:p.Ala245del
ENST00000635958.1:n.845_847del
ENST00000635973.1:c.485_487del	ENSP00000490363.1:p.Ala162del
ENST00000636017.1:c.*258_*260del	ENSP00000490538.1:n.*258_*260del
ENST00000636078.1:n.776_778del
ENST00000636147.2:c.734_736del MANE Select	ENSP00000490105.1:p.Ala245del
ENST00000636172.1:c.*258_*260del	ENSP00000490505.1:n.*258_*260del
ENST00000636228.1:c.428_430del	ENSP00000489627.1:p.Ala143del
ENST00000636351.1:n.454_456del
ENST00000636503.1:c.734_736del	ENSP00000489824.1:p.Ala245del
ENST00000636685.1:n.241_243del
ENST00000636766.1:c.734_736del	ENSP00000489841.1:p.Ala245del
ENST00000636839.1:n.886_888del
ENST00000636853.1:n.1649_1651del
ENST00000636866.1:c.734_736del	ENSP00000490880.1:p.Ala245del
ENST00000636907.1:n.885_887del
ENST00000636977.1:n.1802_1804del
ENST00000637050.1:n.821_823del
ENST00000637100.1:c.734_736del	ENSP00000490394.1:p.Ala245del
ENST00000637107.1:c.*258_*260del	ENSP00000490248.1:n.*258_*260del
ENST00000637184.1:c.734_736del	ENSP00000489952.1:p.Ala245del
ENST00000637299.1:c.*543_*545del	ENSP00000489823.1:n.*543_*545del
ENST00000637376.1:c.734_736del	ENSP00000490758.1:p.Ala245del
ENST00000637578.1:c.*258_*260del	ENSP00000490206.1:n.*258_*260del
ENST00000637699.1:c.517_519del	ENSP00000490049.1:p.Gln173del
ENST00000637745.1:c.73_75del
ENST00000637871.1:c.*258_*260del	ENSP00000490670.1:n.*258_*260del
ENST00000333496.13:c.662_664del	ENSP00000329171.9:p.Ala221del
ENST00000355477.9:c.517_519del	ENSP00000347660.6:p.Gln173del
ENST00000357806.11:c.437_439del	ENSP00000350457.7:p.Ala146del
ENST00000357857.13:c.572_574del	ENSP00000350523.9:p.Ala191del
ENST00000359984.11:c.428_430del	ENSP00000353073.8:p.Ala143del
ENST00000360019.6:c.734_736del	ENSP00000353116.2:p.Ala245del
ENST00000395653.8:c.434_436del	ENSP00000379014.4:p.Ala145del
ENST00000561689.5:n.575_577del
ENST00000563874.5:n.2088_2090del
ENST00000564574.5:n.782_784del
ENST00000565047.1:n.328_330del
ENST00000565140.5:c.517_519del	ENSP00000455342.1:p.Gln173del
ENST00000565316.5:c.734_736del	ENSP00000456117.1:p.Ala245del
ENST00000565688.5:c.485_487del	ENSP00000456122.1:p.Ala162del
ENST00000565778.5:c.365_367del	ENSP00000458015.1:p.Ala122del
ENST00000566057.5:c.348_350del	ENSP00000456693.1:n.348_350del
ENST00000566083.5:n.965_967del
ENST00000566824.5:n.783_785del
ENST00000567495.5:c.517_519del	ENSP00000456013.1:p.Gln173del
ENST00000567963.5:c.734_736del	ENSP00000455387.1:p.Ala245del
ENST00000568076.5:n.517_519del
ENST00000568224.4:c.500_502del	ENSP00000454253.1:p.Ala167del
ENST00000568422.5:c.370_372del	ENSP00000455549.1:p.Gln124del
ENST00000568452.5:n.734_736del
ENST00000568472.5:n.214_216del
ENST00000568497.5:c.*30_*32del	ENSP00000456414.1:n.*30_*32del
ENST00000568558.5:c.275_277del	ENSP00000455603.1:p.Ala92del
ENST00000569030.5:c.461-1390_461-1388del	ENSP00000454680.1:n.461-1390_461-1388del
ENST00000569430.5:c.734_736del	ENSP00000454229.1:p.Ala245del
ENST00000628023.2:c.*30_*32del	ENSP00000486178.1:n.*30_*32del
ENST00000631023.2:c.734_736del	ENSP00000486616.1:p.Ala245del
NM_000086.2:c.734_736del , LRG_689t1:c.734_736del	NP_000077.1:p.Ala245del
NM_001042432.1:c.734_736del , LRG_689t2:c.734_736del	NP_001035897.1:p.Ala245del
NM_001286104.1:c.662_664del	NP_001273033.1:p.Ala221del
NM_001286105.1:c.434_436del	NP_001273034.1:p.Ala145del
NM_001286109.1:c.500_502del	NP_001273038.1:p.Ala167del
NM_001286110.1:c.572_574del	NP_001273039.1:p.Ala191del
NM_001042432.2:c.734_736del MANE Select	NP_001035897.1:p.Ala245del
NM_001286104.2:c.662_664del	NP_001273033.1:p.Ala221del
NM_001286105.2:c.434_436del	NP_001273034.1:p.Ala145del
NM_001286109.2:c.500_502del	NP_001273038.1:p.Ala167del
NM_001286110.2:c.572_574del	NP_001273039.1:p.Ala191del