Canonical Allele Identifier: CA622160714
Gene: CLN3 HGNC NCBI

Linked Data

dbSNP Id: rs1289022646
gnomAD v2: 16-28498899-GTC-G
gnomAD v4: 16-28487578-GTC-G
MyVariant Identifiers: chr16:g.28498900_28498901del (hg19) chr16:g.28487579_28487580del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28487582_28487583del , CM000678.2:g.28487582_28487583del GRCh38
NC_000016.9:g.28498903_28498904del , CM000678.1:g.28498903_28498904del GRCh37
NC_000016.8:g.28406404_28406405del NCBI36
NG_008654.2:g.9723_9724del , LRG_689:g.9723_9724del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.303-39_303-38del ENSP00000329171.9:n.303-39_303-38del
ENST00000355477.10:c.375-39_375-38del ENSP00000347660.7:n.375-39_375-38del
ENST00000357857.14:c.213-39_213-38del ENSP00000350523.9:n.213-39_213-38del
ENST00000359984.12:c.375-39_375-38del ENSP00000353073.9:n.375-39_375-38del
ENST00000360019.8:c.303-39_303-38del ENSP00000353116.3:n.303-39_303-38del
ENST00000395653.9:c.133-39_133-38del ENSP00000379014.5:n.133-39_133-38del
ENST00000561505.2:c.61-39_61-38del ENSP00000457615.2:n.61-39_61-38del
ENST00000561689.6:n.660-39_660-38del
ENST00000565316.6:c.375-39_375-38del ENSP00000456117.1:n.375-39_375-38del
ENST00000565778.6:c.223-39_223-38del ENSP00000458015.1:n.223-39_223-38del
ENST00000566083.6:n.833-39_833-38del
ENST00000566824.6:n.355-39_355-38del
ENST00000567495.6:c.375-39_375-38del ENSP00000456013.2:n.375-39_375-38del
ENST00000567963.6:c.213-39_213-38del ENSP00000455387.2:n.213-39_213-38del
ENST00000568076.6:n.502-39_502-38del
ENST00000568422.6:c.375-39_375-38del ENSP00000455549.2:n.375-39_375-38del
ENST00000568443.2:c.528-39_528-38del ENSP00000454899.2:n.528-39_528-38del
ENST00000568452.6:n.478-39_478-38del
ENST00000568472.6:n.468-39_468-38del
ENST00000568497.6:c.-293+1710_-293+1711del ENSP00000456414.2:n.-293+1710_-293+1711del
ENST00000568558.6:c.295-39_295-38del ENSP00000455603.2:n.295-39_295-38del
ENST00000569430.7:c.375-39_375-38del ENSP00000454229.1:n.375-39_375-38del
ENST00000628023.3:c.222+1710_222+1711del ENSP00000486178.1:n.222+1710_222+1711del
ENST00000635861.1:c.133-39_133-38del ENSP00000490034.1:n.133-39_133-38del
ENST00000635887.1:c.375-39_375-38del ENSP00000490709.1:n.375-39_375-38del
ENST00000635958.1:n.486-39_486-38del
ENST00000635973.1:c.126-39_126-38del ENSP00000490363.1:n.126-39_126-38del
ENST00000636017.1:c.295-39_295-38del ENSP00000490538.1:n.295-39_295-38del
ENST00000636078.1:n.417-39_417-38del
ENST00000636147.2:c.375-39_375-38del MANE Select ENSP00000490105.1:n.375-39_375-38del
ENST00000636172.1:c.295-39_295-38del ENSP00000490505.1:n.295-39_295-38del
ENST00000636228.1:c.213-39_213-38del ENSP00000489627.1:n.213-39_213-38del
ENST00000636351.1:n.95-39_95-38del
ENST00000636503.1:c.375-39_375-38del ENSP00000489824.1:n.375-39_375-38del
ENST00000636766.1:c.375-39_375-38del ENSP00000489841.1:n.375-39_375-38del
ENST00000636839.1:n.527-39_527-38del
ENST00000636853.1:n.451-39_451-38del
ENST00000636866.1:c.375-39_375-38del ENSP00000490880.1:n.375-39_375-38del
ENST00000636977.1:n.1404_1405del
ENST00000637100.1:c.375-39_375-38del ENSP00000490394.1:n.375-39_375-38del
ENST00000637107.1:c.448-39_448-38del ENSP00000490248.1:n.448-39_448-38del
ENST00000637184.1:c.375-39_375-38del ENSP00000489952.1:n.375-39_375-38del
ENST00000637299.1:c.*184-39_*184-38del ENSP00000489823.1:n.*184-39_*184-38del
ENST00000637376.1:c.375-39_375-38del ENSP00000490758.1:n.375-39_375-38del
ENST00000637578.1:c.133-39_133-38del ENSP00000490206.1:n.133-39_133-38del
ENST00000637699.1:c.375-39_375-38del ENSP00000490049.1:n.375-39_375-38del
ENST00000637871.1:c.295-39_295-38del ENSP00000490670.1:n.295-39_295-38del
ENST00000637985.1:c.*314-39_*314-38del ENSP00000490932.1:n.*314-39_*314-38del
ENST00000333496.13:c.303-39_303-38del ENSP00000329171.9:n.303-39_303-38del
ENST00000355477.9:c.375-39_375-38del ENSP00000347660.6:n.375-39_375-38del
ENST00000357806.11:c.295-39_295-38del ENSP00000350457.7:n.295-39_295-38del
ENST00000357857.13:c.213-39_213-38del ENSP00000350523.9:n.213-39_213-38del
ENST00000359984.11:c.213-39_213-38del ENSP00000353073.8:n.213-39_213-38del
ENST00000360019.6:c.375-39_375-38del ENSP00000353116.2:n.375-39_375-38del
ENST00000395653.8:c.75-39_75-38del ENSP00000379014.4:n.75-39_75-38del
ENST00000561505.1:c.75-39_75-38del ENSP00000457615.1:n.75-39_75-38del
ENST00000561689.5:n.216-39_216-38del
ENST00000563874.5:n.1729-39_1729-38del
ENST00000564574.5:n.423-39_423-38del
ENST00000565047.1:n.186-39_186-38del
ENST00000565140.5:c.375-39_375-38del ENSP00000455342.1:n.375-39_375-38del
ENST00000565316.5:c.375-39_375-38del ENSP00000456117.1:n.375-39_375-38del
ENST00000565688.5:c.126-39_126-38del ENSP00000456122.1:n.126-39_126-38del
ENST00000565778.5:c.223-39_223-38del ENSP00000458015.1:n.223-39_223-38del
ENST00000566057.5:c.206-39_206-38del ENSP00000456693.1:n.206-39_206-38del
ENST00000566083.5:n.606-39_606-38del
ENST00000566824.5:n.424-39_424-38del
ENST00000567495.5:c.375-39_375-38del ENSP00000456013.1:n.375-39_375-38del
ENST00000567963.5:c.375-39_375-38del ENSP00000455387.1:n.375-39_375-38del
ENST00000568076.5:n.375-39_375-38del
ENST00000568224.4:c.141-39_141-38del ENSP00000454253.1:n.141-39_141-38del
ENST00000568422.5:c.155-39_155-38del ENSP00000455549.1:n.155-39_155-38del
ENST00000568452.5:n.375-39_375-38del
ENST00000568472.5:n.157+1710_157+1711del
ENST00000568497.5:c.222+1710_222+1711del ENSP00000456414.1:n.222+1710_222+1711del
ENST00000568558.5:c.133-39_133-38del ENSP00000455603.1:n.133-39_133-38del
ENST00000569030.5:c.375-39_375-38del ENSP00000454680.1:n.375-39_375-38del
ENST00000569430.5:c.375-39_375-38del ENSP00000454229.1:n.375-39_375-38del
ENST00000628023.2:c.222+1710_222+1711del ENSP00000486178.1:n.222+1710_222+1711del
ENST00000631023.2:c.375-39_375-38del ENSP00000486616.1:n.375-39_375-38del
NM_000086.2:c.375-39_375-38del , LRG_689t1:c.375-39_375-38del NP_000077.1:n.375-39_375-38del
NM_001042432.1:c.375-39_375-38del , LRG_689t2:c.375-39_375-38del NP_001035897.1:n.375-39_375-38del
NM_001286104.1:c.303-39_303-38del NP_001273033.1:n.303-39_303-38del
NM_001286105.1:c.75-39_75-38del NP_001273034.1:n.75-39_75-38del
NM_001286109.1:c.141-39_141-38del NP_001273038.1:n.141-39_141-38del
NM_001286110.1:c.213-39_213-38del NP_001273039.1:n.213-39_213-38del
NM_001042432.2:c.375-39_375-38del MANE Select NP_001035897.1:n.375-39_375-38del
NM_001286104.2:c.303-39_303-38del NP_001273033.1:n.303-39_303-38del
NM_001286105.2:c.75-39_75-38del NP_001273034.1:n.75-39_75-38del
NM_001286109.2:c.141-39_141-38del NP_001273038.1:n.141-39_141-38del
NM_001286110.2:c.213-39_213-38del NP_001273039.1:n.213-39_213-38del
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