Canonical Allele Identifier: CA7980841

Gene: CLN3

Linked Data

• ClinVar Variation Id: 2769845
• ClinVar RCV Id: RCV003532497
• dbSNP Id: rs762192561
• ExAC: 16:28495387 CT / C
• gnomAD v2: 16-28495387-CT-C
• gnomAD v4: 16-28484066-CT-C
• MyVariant Identifiers: chr16:g.28495388del (hg19) ; chr16:g.28484067del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28484068del , CM000678.2:g.28484068del	GRCh38
NC_000016.9:g.28495389del , CM000678.1:g.28495389del	GRCh37
NC_000016.8:g.28402890del	NCBI36
NG_008654.2:g.13236del , LRG_689:g.13236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333496.14:c.657del	ENSP00000329171.9:p.Glu220LysfsTer11
ENST00000355477.10:c.585del	ENSP00000347660.7:p.Glu196LysfsTer11
ENST00000357857.14:c.567del	ENSP00000350523.9:p.Glu190LysfsTer11
ENST00000359984.12:c.729del	ENSP00000353073.9:p.Glu244LysfsTer11
ENST00000360019.8:c.657del	ENSP00000353116.3:p.Glu220LysfsTer11
ENST00000395653.9:c.270del	ENSP00000379014.5:p.Glu91LysfsTer11
ENST00000561689.6:n.1014del
ENST00000564091.6:c.69del	ENSP00000454466.2:p.Glu24LysfsTer11
ENST00000565316.6:c.729del	ENSP00000456117.1:p.Glu244LysfsTer11
ENST00000565778.6:c.360del	ENSP00000458015.1:p.Glu121LysfsTer11
ENST00000566083.6:n.1187del
ENST00000566824.6:n.709del
ENST00000567963.6:c.567del	ENSP00000455387.2:p.Glu190LysfsTer11
ENST00000568076.6:n.856del
ENST00000568422.6:c.512del	ENSP00000455549.2:p.Lys171ArgfsTer?
ENST00000568452.6:n.832del
ENST00000568472.6:n.605del
ENST00000568497.6:c.-241del	ENSP00000456414.2:n.-241del
ENST00000568558.6:c.432del	ENSP00000455603.2:p.Glu145LysfsTer11
ENST00000569430.7:c.729del	ENSP00000454229.1:p.Glu244LysfsTer11
ENST00000628023.3:c.*25del	ENSP00000486178.1:n.*25del
ENST00000635861.1:c.*253del	ENSP00000490034.1:n.*253del
ENST00000635887.1:c.729del	ENSP00000490709.1:p.Glu244LysfsTer11
ENST00000635958.1:n.840del
ENST00000635973.1:c.480del	ENSP00000490363.1:p.Glu161LysfsTer11
ENST00000636017.1:c.*253del	ENSP00000490538.1:n.*253del
ENST00000636078.1:n.771del
ENST00000636147.2:c.729del MANE Select	ENSP00000490105.1:p.Glu244LysfsTer11
ENST00000636172.1:c.*253del	ENSP00000490505.1:n.*253del
ENST00000636228.1:c.423del	ENSP00000489627.1:p.Glu142LysfsTer11
ENST00000636351.1:n.449del
ENST00000636503.1:c.729del	ENSP00000489824.1:p.Glu244LysfsTer11
ENST00000636685.1:n.236del
ENST00000636766.1:c.729del	ENSP00000489841.1:p.Glu244LysfsTer11
ENST00000636839.1:n.881del
ENST00000636853.1:n.1644del
ENST00000636866.1:c.729del	ENSP00000490880.1:p.Glu244LysfsTer11
ENST00000636907.1:n.880del
ENST00000636977.1:n.1797del
ENST00000637050.1:n.816del
ENST00000637100.1:c.729del	ENSP00000490394.1:p.Glu244LysfsTer11
ENST00000637107.1:c.*253del	ENSP00000490248.1:n.*253del
ENST00000637184.1:c.729del	ENSP00000489952.1:p.Glu244LysfsTer11
ENST00000637299.1:c.*538del	ENSP00000489823.1:n.*538del
ENST00000637376.1:c.729del	ENSP00000490758.1:p.Glu244LysfsTer11
ENST00000637578.1:c.*253del	ENSP00000490206.1:n.*253del
ENST00000637699.1:c.512del	ENSP00000490049.1:p.Lys171ArgfsTer?
ENST00000637745.1:c.68del
ENST00000637871.1:c.*253del	ENSP00000490670.1:n.*253del
ENST00000333496.13:c.657del	ENSP00000329171.9:p.Glu220LysfsTer11
ENST00000355477.9:c.512del	ENSP00000347660.6:p.Lys171ArgfsTer?
ENST00000357806.11:c.432del	ENSP00000350457.7:p.Glu145LysfsTer11
ENST00000357857.13:c.567del	ENSP00000350523.9:p.Glu190LysfsTer11
ENST00000359984.11:c.423del	ENSP00000353073.8:p.Glu142LysfsTer11
ENST00000360019.6:c.729del	ENSP00000353116.2:p.Glu244LysfsTer11
ENST00000395653.8:c.429del	ENSP00000379014.4:p.Glu144LysfsTer11
ENST00000561689.5:n.570del
ENST00000563874.5:n.2083del
ENST00000564574.5:n.777del
ENST00000565047.1:n.323del
ENST00000565140.5:c.512del	ENSP00000455342.1:p.Lys171ArgfsTer?
ENST00000565316.5:c.729del	ENSP00000456117.1:p.Glu244LysfsTer11
ENST00000565688.5:c.480del	ENSP00000456122.1:p.Glu161LysfsTer11
ENST00000565778.5:c.360del	ENSP00000458015.1:p.Glu121LysfsTer11
ENST00000566057.5:c.343del	ENSP00000456693.1:n.343del
ENST00000566083.5:n.960del
ENST00000566824.5:n.778del
ENST00000567495.5:c.512del	ENSP00000456013.1:p.Lys171ArgfsTer?
ENST00000567963.5:c.729del	ENSP00000455387.1:p.Glu244LysfsTer11
ENST00000568076.5:n.512del
ENST00000568224.4:c.495del	ENSP00000454253.1:p.Glu166LysfsTer11
ENST00000568422.5:c.365del	ENSP00000455549.1:p.Lys122ArgfsTer?
ENST00000568452.5:n.729del
ENST00000568472.5:n.209del
ENST00000568497.5:c.*25del	ENSP00000456414.1:n.*25del
ENST00000568558.5:c.270del	ENSP00000455603.1:p.Glu91LysfsTer11
ENST00000569030.5:c.461-1395del	ENSP00000454680.1:n.461-1395del
ENST00000569430.5:c.729del	ENSP00000454229.1:p.Glu244LysfsTer11
ENST00000628023.2:c.*25del	ENSP00000486178.1:n.*25del
ENST00000631023.2:c.729del	ENSP00000486616.1:p.Glu244LysfsTer11
NM_000086.2:c.729del , LRG_689t1:c.729del	NP_000077.1:p.Glu244LysfsTer11
NM_001042432.1:c.729del , LRG_689t2:c.729del	NP_001035897.1:p.Glu244LysfsTer11
NM_001286104.1:c.657del	NP_001273033.1:p.Glu220LysfsTer11
NM_001286105.1:c.429del	NP_001273034.1:p.Glu144LysfsTer11
NM_001286109.1:c.495del	NP_001273038.1:p.Glu166LysfsTer11
NM_001286110.1:c.567del	NP_001273039.1:p.Glu190LysfsTer11
NM_001042432.2:c.729del MANE Select	NP_001035897.1:p.Glu244LysfsTer11
NM_001286104.2:c.657del	NP_001273033.1:p.Glu220LysfsTer11
NM_001286105.2:c.429del	NP_001273034.1:p.Glu144LysfsTer11
NM_001286109.2:c.495del	NP_001273038.1:p.Glu166LysfsTer11
NM_001286110.2:c.567del	NP_001273039.1:p.Glu190LysfsTer11