Canonical Allele Identifier: CA2999827016
Gene: CLN3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482407_28482408del , CM000678.2:g.28482407_28482408del GRCh38
NC_000016.9:g.28493728_28493729del , CM000678.1:g.28493728_28493729del GRCh37
NC_000016.8:g.28401229_28401230del NCBI36
NG_008654.2:g.14897_14898del , LRG_689:g.14897_14898del

Transcript Alleles

HGVS Amino-acid Change
NM_001042432.2:c.907-24_907-23del MANE Select NP_001035897.1:n.907-24_907-23del
ENST00000636147.2:c.907-24_907-23del MANE Select ENSP00000490105.1:n.907-24_907-23del
NM_000086.2:c.907-24_907-23del , LRG_689t1:c.907-24_907-23del NP_000077.1:n.907-24_907-23del
NM_001042432.1:c.907-24_907-23del , LRG_689t2:c.907-24_907-23del NP_001035897.1:n.907-24_907-23del
NM_001286104.1:c.835-24_835-23del NP_001273033.1:n.835-24_835-23del
NM_001286104.2:c.835-24_835-23del NP_001273033.1:n.835-24_835-23del
NM_001286105.1:c.607-24_607-23del NP_001273034.1:n.607-24_607-23del
NM_001286105.2:c.607-24_607-23del NP_001273034.1:n.607-24_607-23del
NM_001286109.1:c.673-24_673-23del NP_001273038.1:n.673-24_673-23del
NM_001286109.2:c.673-24_673-23del NP_001273038.1:n.673-24_673-23del
NM_001286110.1:c.745-24_745-23del NP_001273039.1:n.745-24_745-23del
NM_001286110.2:c.745-24_745-23del NP_001273039.1:n.745-24_745-23del
ENST00000333496.13:c.835-24_835-23del ENSP00000329171.9:n.835-24_835-23del
ENST00000333496.14:c.835-24_835-23del ENSP00000329171.9:n.835-24_835-23del
ENST00000355477.10:c.763-24_763-23del ENSP00000347660.7:n.763-24_763-23del
ENST00000355477.9:c.*144-24_*144-23del ENSP00000347660.6:n.*144-24_*144-23del
ENST00000357806.11:c.610-24_610-23del ENSP00000350457.7:n.610-24_610-23del
ENST00000357857.13:c.745-24_745-23del ENSP00000350523.9:n.745-24_745-23del
ENST00000357857.14:c.745-24_745-23del ENSP00000350523.9:n.745-24_745-23del
ENST00000359984.11:c.601-24_601-23del ENSP00000353073.8:n.601-24_601-23del
ENST00000359984.12:c.907-24_907-23del ENSP00000353073.9:n.907-24_907-23del
ENST00000360019.6:c.907-24_907-23del ENSP00000353116.2:n.907-24_907-23del
ENST00000360019.8:c.835-24_835-23del ENSP00000353116.3:n.835-24_835-23del
ENST00000395653.8:c.607-24_607-23del ENSP00000379014.4:n.607-24_607-23del
ENST00000395653.9:c.448-24_448-23del ENSP00000379014.5:n.448-24_448-23del
ENST00000561689.5:n.748-24_748-23del
ENST00000561689.6:n.1192-24_1192-23del
ENST00000563874.5:n.2411_2412del
ENST00000564091.6:c.247-24_247-23del ENSP00000454466.2:n.247-24_247-23del
ENST00000564574.5:n.955-24_955-23del
ENST00000565140.5:c.690-24_690-23del ENSP00000455342.1:n.690-24_690-23del
ENST00000565316.5:c.856-24_856-23del ENSP00000456117.1:n.856-24_856-23del
ENST00000565316.6:c.856-24_856-23del ENSP00000456117.1:n.856-24_856-23del
ENST00000565354.5:n.196_197del
ENST00000566057.5:c.521-24_521-23del ENSP00000456693.1:n.521-24_521-23del
ENST00000566824.6:n.967-24_967-23del
ENST00000567963.5:c.906+71_906+72del ENSP00000455387.1:n.906+71_906+72del
ENST00000567963.6:c.745-24_745-23del ENSP00000455387.2:n.745-24_745-23del
ENST00000568076.5:n.690-24_690-23del
ENST00000568076.6:n.1184_1185del
ENST00000568224.4:c.673-24_673-23del ENSP00000454253.1:n.673-24_673-23del
ENST00000568422.5:c.*144-24_*144-23del ENSP00000455549.1:n.*144-24_*144-23del
ENST00000568422.6:c.*144-24_*144-23del ENSP00000455549.2:n.*144-24_*144-23del
ENST00000568452.5:n.907-24_907-23del
ENST00000568452.6:n.1010-24_1010-23del
ENST00000568472.5:n.387-24_387-23del
ENST00000568472.6:n.933_934del
ENST00000568497.5:c.*203-24_*203-23del ENSP00000456414.1:n.*203-24_*203-23del
ENST00000568497.6:c.-63-24_-63-23del ENSP00000456414.2:n.-63-24_-63-23del
ENST00000568558.5:c.448-24_448-23del ENSP00000455603.1:n.448-24_448-23del
ENST00000569030.5:c.577-24_577-23del ENSP00000454680.1:n.577-24_577-23del
ENST00000569430.5:c.907-24_907-23del ENSP00000454229.1:n.907-24_907-23del
ENST00000569430.7:c.907-24_907-23del ENSP00000454229.1:n.907-24_907-23del
ENST00000628023.2:c.*203-24_*203-23del ENSP00000486178.1:n.*203-24_*203-23del
ENST00000628023.3:c.*203-24_*203-23del ENSP00000486178.1:n.*203-24_*203-23del
ENST00000631023.2:c.906+71_906+72del ENSP00000486616.1:n.906+71_906+72del
ENST00000635861.1:c.*431-24_*431-23del ENSP00000490034.1:n.*431-24_*431-23del
ENST00000635887.1:c.907-24_907-23del ENSP00000490709.1:n.907-24_907-23del
ENST00000635958.1:n.1168_1169del
ENST00000635973.1:c.658-24_658-23del ENSP00000490363.1:n.658-24_658-23del
ENST00000636017.1:c.*431-24_*431-23del ENSP00000490538.1:n.*431-24_*431-23del
ENST00000636078.1:n.1029-24_1029-23del
ENST00000636172.1:c.*431-24_*431-23del ENSP00000490505.1:n.*431-24_*431-23del
ENST00000636228.1:c.601-24_601-23del ENSP00000489627.1:n.601-24_601-23del
ENST00000636351.1:n.777_778del
ENST00000636503.1:c.907-24_907-23del ENSP00000489824.1:n.907-24_907-23del
ENST00000636685.1:n.564_565del
ENST00000636766.1:c.907-24_907-23del ENSP00000489841.1:n.907-24_907-23del
ENST00000636839.1:n.1129_1130del
ENST00000636853.1:n.1822-24_1822-23del
ENST00000636866.1:c.907-24_907-23del ENSP00000490880.1:n.907-24_907-23del
ENST00000636907.1:n.1058-24_1058-23del
ENST00000636977.1:n.2125_2126del
ENST00000637050.1:n.1144_1145del
ENST00000637100.1:c.856-24_856-23del ENSP00000490394.1:n.856-24_856-23del
ENST00000637107.1:c.*431-24_*431-23del ENSP00000490248.1:n.*431-24_*431-23del
ENST00000637184.1:c.907-24_907-23del ENSP00000489952.1:n.907-24_907-23del
ENST00000637299.1:c.*716-24_*716-23del ENSP00000489823.1:n.*716-24_*716-23del
ENST00000637376.1:c.907-24_907-23del ENSP00000490758.1:n.907-24_907-23del
ENST00000637378.1:c.79-24_79-23del ENSP00000490831.1:n.79-24_79-23del
ENST00000637578.1:c.*431-24_*431-23del ENSP00000490206.1:n.*431-24_*431-23del
ENST00000637699.1:c.690-24_690-23del ENSP00000490049.1:n.690-24_690-23del
ENST00000637745.1:c.246-24_246-23del
ENST00000637871.1:c.*581_*582del ENSP00000490670.1:n.*581_*582del
ENST00000638036.1:c.69-24_69-23del
Search 100 bp 5'
Search 100 bp 3'