Canonical Allele Identifier: CA267583
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 100719
ClinVar RCV Id: RCV000087084
dbSNP Id: rs587779397
MyVariant Identifiers: chr16:g.28498985_28498986insA (hg19) chr16:g.28487664_28487665insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28487664_28487665insA , CM000678.2:g.28487664_28487665insA GRCh38
NC_000016.9:g.28498985_28498986insA , CM000678.1:g.28498985_28498986insA GRCh37
NC_000016.8:g.28406486_28406487insA NCBI36
NG_008654.2:g.9638_9639insT , LRG_689:g.9638_9639insT

Transcript Alleles

HGVS Amino-acid change
ENST00000333496.14:c.299_300insT ENSP00000329171.9:p.Ser101GlnfsTer?
ENST00000355477.10:c.371_372insT ENSP00000347660.7:p.Ser125GlnfsTer?
ENST00000357857.14:c.209_210insT ENSP00000350523.9:p.Ser71GlnfsTer?
ENST00000359984.12:c.371_372insT ENSP00000353073.9:p.Ser125GlnfsTer?
ENST00000360019.8:c.299_300insT ENSP00000353116.3:p.Ser101GlnfsTer?
ENST00000395653.9:c.133-124_133-123insT ENSP00000379014.5:n.133-124_133-123insT
ENST00000561505.2:c.61-124_61-123insT ENSP00000457615.2:n.61-124_61-123insT
ENST00000561689.6:n.656_657insT
ENST00000565316.6:c.371_372insT ENSP00000456117.1:p.Ser125GlnfsTer?
ENST00000565778.6:c.223-124_223-123insT ENSP00000458015.1:n.223-124_223-123insT
ENST00000566083.6:n.829_830insT
ENST00000566824.6:n.351_352insT
ENST00000567495.6:c.371_372insT ENSP00000456013.2:p.Ser125GlnfsTer?
ENST00000567963.6:c.209_210insT ENSP00000455387.2:p.Ser71GlnfsTer?
ENST00000568076.6:n.498_499insT
ENST00000568422.6:c.371_372insT ENSP00000455549.2:p.Ser125GlnfsTer?
ENST00000568443.2:c.524_525insT ENSP00000454899.2:p.Ser176GlnfsTer?
ENST00000568452.6:n.474_475insT
ENST00000568472.6:n.468-124_468-123insT
ENST00000568497.6:c.-293+1625_-293+1626insT ENSP00000456414.2:n.-293+1625_-293+1626in...
ENST00000568558.6:c.295-124_295-123insT ENSP00000455603.2:n.295-124_295-123insT
ENST00000569430.7:c.371_372insT ENSP00000454229.1:p.Ser125GlnfsTer?
ENST00000628023.3:c.222+1625_222+1626insT ENSP00000486178.1:n.222+1625_222+1626insT...
ENST00000635861.1:c.133-124_133-123insT ENSP00000490034.1:n.133-124_133-123insT
ENST00000635887.1:c.371_372insT ENSP00000490709.1:p.Ser125GlnfsTer?
ENST00000635958.1:n.482_483insT
ENST00000635973.1:c.126-124_126-123insT ENSP00000490363.1:n.126-124_126-123insT
ENST00000636017.1:c.295-124_295-123insT ENSP00000490538.1:n.295-124_295-123insT
ENST00000636078.1:n.413_414insT
ENST00000636147.2:c.371_372insT MANE Select ENSP00000490105.1:p.Ser125GlnfsTer?
ENST00000636172.1:c.295-124_295-123insT ENSP00000490505.1:n.295-124_295-123insT
ENST00000636228.1:c.209_210insT ENSP00000489627.1:p.Ser71GlnfsTer?
ENST00000636351.1:n.91_92insT
ENST00000636503.1:c.371_372insT ENSP00000489824.1:p.Ser125GlnfsTer?
ENST00000636766.1:c.371_372insT ENSP00000489841.1:p.Ser125GlnfsTer?
ENST00000636839.1:n.523_524insT
ENST00000636853.1:n.447_448insT
ENST00000636866.1:c.371_372insT ENSP00000490880.1:p.Ser125GlnfsTer?
ENST00000636977.1:n.1319_1320insT
ENST00000637100.1:c.371_372insT ENSP00000490394.1:p.Ser125GlnfsTer?
ENST00000637107.1:c.448-124_448-123insT ENSP00000490248.1:n.448-124_448-123insT
ENST00000637184.1:c.371_372insT ENSP00000489952.1:p.Ser125GlnfsTer?
ENST00000637299.1:c.*180_*181insT ENSP00000489823.1:n.*180_*181insT
ENST00000637376.1:c.371_372insT ENSP00000490758.1:p.Ser125GlnfsTer?
ENST00000637578.1:c.133-124_133-123insT ENSP00000490206.1:n.133-124_133-123insT
ENST00000637699.1:c.371_372insT ENSP00000490049.1:p.Ser125GlnfsTer?
ENST00000637871.1:c.295-124_295-123insT ENSP00000490670.1:n.295-124_295-123insT
ENST00000637985.1:c.*310_*311insT ENSP00000490932.1:n.*310_*311insT
ENST00000333496.13:c.299_300insT ENSP00000329171.9:p.Ser101GlnfsTer?
ENST00000355477.9:c.371_372insT ENSP00000347660.6:p.Ser125GlnfsTer?
ENST00000357806.11:c.295-124_295-123insT ENSP00000350457.7:n.295-124_295-123insT
ENST00000357857.13:c.209_210insT ENSP00000350523.9:p.Ser71GlnfsTer?
ENST00000359984.11:c.209_210insT ENSP00000353073.8:p.Ser71GlnfsTer?
ENST00000360019.6:c.371_372insT ENSP00000353116.2:p.Ser125GlnfsTer?
ENST00000395653.8:c.75-124_75-123insT ENSP00000379014.4:n.75-124_75-123insT
ENST00000561505.1:c.75-124_75-123insT ENSP00000457615.1:n.75-124_75-123insT
ENST00000561689.5:n.216-124_216-123insT
ENST00000563874.5:n.1725_1726insT
ENST00000564574.5:n.419_420insT
ENST00000565047.1:n.186-124_186-123insT
ENST00000565140.5:c.371_372insT ENSP00000455342.1:p.Ser125GlnfsTer?
ENST00000565316.5:c.371_372insT ENSP00000456117.1:p.Ser125GlnfsTer?
ENST00000565688.5:c.126-124_126-123insT ENSP00000456122.1:n.126-124_126-123insT
ENST00000565778.5:c.223-124_223-123insT ENSP00000458015.1:n.223-124_223-123insT
ENST00000566057.5:c.202_203insT ENSP00000456693.1:p.Thr68IlefsTer?
ENST00000566083.5:n.602_603insT
ENST00000566824.5:n.424-124_424-123insT
ENST00000567495.5:c.371_372insT ENSP00000456013.1:p.Ser125GlnfsTer?
ENST00000567963.5:c.371_372insT ENSP00000455387.1:p.Ser125GlnfsTer?
ENST00000568076.5:n.371_372insT
ENST00000568224.4:c.137_138insT ENSP00000454253.1:p.Ser47GlnfsTer?
ENST00000568422.5:c.151_152insT ENSP00000455549.1:p.Thr51IlefsTer?
ENST00000568443.1:c.524_525insT ENSP00000454899.1:p.Tyr175=
ENST00000568452.5:n.371_372insT
ENST00000568472.5:n.157+1625_157+1626insT
ENST00000568497.5:c.222+1625_222+1626insT ENSP00000456414.1:n.222+1625_222+1626insT...
ENST00000568558.5:c.133-124_133-123insT ENSP00000455603.1:n.133-124_133-123insT
ENST00000569030.5:c.371_372insT ENSP00000454680.1:p.Ser125GlnfsTer?
ENST00000569430.5:c.371_372insT ENSP00000454229.1:p.Ser125GlnfsTer?
ENST00000628023.2:c.222+1625_222+1626insT ENSP00000486178.1:n.222+1625_222+1626insT...
ENST00000631023.2:c.371_372insT ENSP00000486616.1:p.Ser125GlnfsTer?
NM_000086.2:c.371_372insT , LRG_689t1:c.371_372insT NP_000077.1:p.Ser125GlnfsTer?
NM_001042432.1:c.371_372insT , LRG_689t2:c.371_372insT NP_001035897.1:p.Ser125GlnfsTer?
NM_001286104.1:c.299_300insT NP_001273033.1:p.Ser101GlnfsTer?
NM_001286105.1:c.75-124_75-123insT NP_001273034.1:n.75-124_75-123insT
NM_001286109.1:c.137_138insT NP_001273038.1:p.Ser47GlnfsTer?
NM_001286110.1:c.209_210insT NP_001273039.1:p.Ser71GlnfsTer?
NM_001042432.2:c.371_372insT MANE Select NP_001035897.1:p.Ser125GlnfsTer?
NM_001286104.2:c.299_300insT NP_001273033.1:p.Ser101GlnfsTer?
NM_001286105.2:c.75-124_75-123insT NP_001273034.1:n.75-124_75-123insT
NM_001286109.2:c.137_138insT NP_001273038.1:p.Ser47GlnfsTer?
NM_001286110.2:c.209_210insT NP_001273039.1:p.Ser71GlnfsTer?
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