Canonical Allele Identifier: CA313818

Gene: CLN3

Linked Data

• ClinVar Variation Id: 205114
• ClinVar RCV Id: RCV000187037 ; RCV000665327
• dbSNP Id: rs796052340
• gnomAD v4: 16-28484062-GCTT-G
• MyVariant Identifiers: chr16:g.28495384_28495386del (hg19) ; chr16:g.28484063_28484065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484070_28484072del , CM000678.2:g.28484070_28484072del	GRCh38
NC_000016.9:g.28495391_28495393del , CM000678.1:g.28495391_28495393del	GRCh37
NC_000016.8:g.28402892_28402894del	NCBI36
NG_008654.2:g.13238_13240del , LRG_689:g.13238_13240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.659_661del	ENSP00000329171.9:p.Glu220del
ENST00000355477.10:c.587_589del	ENSP00000347660.7:p.Glu196del
ENST00000357857.14:c.569_571del	ENSP00000350523.9:p.Glu190del
ENST00000359984.12:c.731_733del	ENSP00000353073.9:p.Glu244del
ENST00000360019.8:c.659_661del	ENSP00000353116.3:p.Glu220del
ENST00000395653.9:c.272_274del	ENSP00000379014.5:p.Glu91del
ENST00000561689.6:n.1016_1018del
ENST00000564091.6:c.71_73del	ENSP00000454466.2:p.Glu24del
ENST00000565316.6:c.731_733del	ENSP00000456117.1:p.Glu244del
ENST00000565778.6:c.362_364del	ENSP00000458015.1:p.Glu121del
ENST00000566083.6:n.1189_1191del
ENST00000566824.6:n.711_713del
ENST00000567963.6:c.569_571del	ENSP00000455387.2:p.Glu190del
ENST00000568076.6:n.858_860del
ENST00000568422.6:c.514_516del	ENSP00000455549.2:p.Lys172del
ENST00000568452.6:n.834_836del
ENST00000568472.6:n.607_609del
ENST00000568497.6:c.-239_-237del	ENSP00000456414.2:n.-239_-237del
ENST00000568558.6:c.434_436del	ENSP00000455603.2:p.Glu145del
ENST00000569430.7:c.731_733del	ENSP00000454229.1:p.Glu244del
ENST00000628023.3:c.*27_*29del	ENSP00000486178.1:n.*27_*29del
ENST00000635861.1:c.*255_*257del	ENSP00000490034.1:n.*255_*257del
ENST00000635887.1:c.731_733del	ENSP00000490709.1:p.Glu244del
ENST00000635958.1:n.842_844del
ENST00000635973.1:c.482_484del	ENSP00000490363.1:p.Glu161del
ENST00000636017.1:c.*255_*257del	ENSP00000490538.1:n.*255_*257del
ENST00000636078.1:n.773_775del
ENST00000636147.2:c.731_733del MANE Select	ENSP00000490105.1:p.Glu244del
ENST00000636172.1:c.*255_*257del	ENSP00000490505.1:n.*255_*257del
ENST00000636228.1:c.425_427del	ENSP00000489627.1:p.Glu142del
ENST00000636351.1:n.451_453del
ENST00000636503.1:c.731_733del	ENSP00000489824.1:p.Glu244del
ENST00000636685.1:n.238_240del
ENST00000636766.1:c.731_733del	ENSP00000489841.1:p.Glu244del
ENST00000636839.1:n.883_885del
ENST00000636853.1:n.1646_1648del
ENST00000636866.1:c.731_733del	ENSP00000490880.1:p.Glu244del
ENST00000636907.1:n.882_884del
ENST00000636977.1:n.1799_1801del
ENST00000637050.1:n.818_820del
ENST00000637100.1:c.731_733del	ENSP00000490394.1:p.Glu244del
ENST00000637107.1:c.*255_*257del	ENSP00000490248.1:n.*255_*257del
ENST00000637184.1:c.731_733del	ENSP00000489952.1:p.Glu244del
ENST00000637299.1:c.*540_*542del	ENSP00000489823.1:n.*540_*542del
ENST00000637376.1:c.731_733del	ENSP00000490758.1:p.Glu244del
ENST00000637578.1:c.*255_*257del	ENSP00000490206.1:n.*255_*257del
ENST00000637699.1:c.514_516del	ENSP00000490049.1:p.Lys172del
ENST00000637745.1:c.70_72del
ENST00000637871.1:c.*255_*257del	ENSP00000490670.1:n.*255_*257del
ENST00000333496.13:c.659_661del	ENSP00000329171.9:p.Glu220del
ENST00000355477.9:c.514_516del	ENSP00000347660.6:p.Lys172del
ENST00000357806.11:c.434_436del	ENSP00000350457.7:p.Glu145del
ENST00000357857.13:c.569_571del	ENSP00000350523.9:p.Glu190del
ENST00000359984.11:c.425_427del	ENSP00000353073.8:p.Glu142del
ENST00000360019.6:c.731_733del	ENSP00000353116.2:p.Glu244del
ENST00000395653.8:c.431_433del	ENSP00000379014.4:p.Glu144del
ENST00000561689.5:n.572_574del
ENST00000563874.5:n.2085_2087del
ENST00000564574.5:n.779_781del
ENST00000565047.1:n.325_327del
ENST00000565140.5:c.514_516del	ENSP00000455342.1:p.Lys172del
ENST00000565316.5:c.731_733del	ENSP00000456117.1:p.Glu244del
ENST00000565688.5:c.482_484del	ENSP00000456122.1:p.Glu161del
ENST00000565778.5:c.362_364del	ENSP00000458015.1:p.Glu121del
ENST00000566057.5:c.345_347del	ENSP00000456693.1:n.345_347del
ENST00000566083.5:n.962_964del
ENST00000566824.5:n.780_782del
ENST00000567495.5:c.514_516del	ENSP00000456013.1:p.Lys172del
ENST00000567963.5:c.731_733del	ENSP00000455387.1:p.Glu244del
ENST00000568076.5:n.514_516del
ENST00000568224.4:c.497_499del	ENSP00000454253.1:p.Glu166del
ENST00000568422.5:c.367_369del	ENSP00000455549.1:p.Lys123del
ENST00000568452.5:n.731_733del
ENST00000568472.5:n.211_213del
ENST00000568497.5:c.*27_*29del	ENSP00000456414.1:n.*27_*29del
ENST00000568558.5:c.272_274del	ENSP00000455603.1:p.Glu91del
ENST00000569030.5:c.461-1393_461-1391del	ENSP00000454680.1:n.461-1393_461-1391del
ENST00000569430.5:c.731_733del	ENSP00000454229.1:p.Glu244del
ENST00000628023.2:c.*27_*29del	ENSP00000486178.1:n.*27_*29del
ENST00000631023.2:c.731_733del	ENSP00000486616.1:p.Glu244del
NM_000086.2:c.731_733del , LRG_689t1:c.731_733del	NP_000077.1:p.Glu244del
NM_001042432.1:c.731_733del , LRG_689t2:c.731_733del	NP_001035897.1:p.Glu244del
NM_001286104.1:c.659_661del	NP_001273033.1:p.Glu220del
NM_001286105.1:c.431_433del	NP_001273034.1:p.Glu144del
NM_001286109.1:c.497_499del	NP_001273038.1:p.Glu166del
NM_001286110.1:c.569_571del	NP_001273039.1:p.Glu190del
NM_001042432.2:c.731_733del MANE Select	NP_001035897.1:p.Glu244del
NM_001286104.2:c.659_661del	NP_001273033.1:p.Glu220del
NM_001286105.2:c.431_433del	NP_001273034.1:p.Glu144del
NM_001286109.2:c.497_499del	NP_001273038.1:p.Glu166del
NM_001286110.2:c.569_571del	NP_001273039.1:p.Glu190del