Canonical Allele Identifier: CA2215697906
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482167_28482169delinsCAA , CM000678.2:g.28482167_28482169delinsCAA GRCh38
NC_000016.9:g.28493488_28493490delinsCAA , CM000678.1:g.28493488_28493490delinsCAA GRCh37
NC_000016.8:g.28400989_28400991delinsCAA NCBI36
NG_008654.2:g.15134_15136delinsTTG , LRG_689:g.15134_15136delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.920_922delinsTTG ENSP00000329171.9:p.Phe307=
ENST00000355477.10:c.848_850delinsTTG ENSP00000347660.7:p.Phe283=
ENST00000357857.14:c.830_832delinsTTG ENSP00000350523.9:p.Phe277=
ENST00000359984.12:c.992_994delinsTTG ENSP00000353073.9:p.Phe331=
ENST00000360019.8:c.920_922delinsTTG ENSP00000353116.3:p.Phe307=
ENST00000395653.9:c.533_535delinsTTG ENSP00000379014.5:p.Phe178=
ENST00000561689.6:n.1405_1407delinsTTG
ENST00000564091.6:c.332_334delinsTTG ENSP00000454466.2:p.Phe111=
ENST00000565316.6:c.941_943delinsTTG ENSP00000456117.1:p.Phe314=
ENST00000566824.6:n.1052_1054delinsTTG
ENST00000567963.6:c.830_832delinsTTG ENSP00000455387.2:p.Phe277=
ENST00000568076.6:n.1421_1423delinsTTG
ENST00000568422.6:c.*229_*231delinsTTG ENSP00000455549.2:n.*229_*231delinsTTG
ENST00000568452.6:n.1223_1225delinsTTG
ENST00000568497.6:c.23_25delinsTTG ENSP00000456414.2:p.Phe8=
ENST00000569430.7:c.992_994delinsTTG ENSP00000454229.1:p.Phe331=
ENST00000628023.3:c.*288_*290delinsTTG ENSP00000486178.1:n.*288_*290delinsTTG
ENST00000635861.1:c.*644_*646delinsTTG ENSP00000490034.1:n.*644_*646delinsTTG
ENST00000635887.1:c.992_994delinsTTG ENSP00000490709.1:p.Phe331=
ENST00000635958.1:n.1277_1279delinsTTG
ENST00000635973.1:c.743_745delinsTTG ENSP00000490363.1:p.Phe248=
ENST00000636017.1:c.*516_*518delinsTTG ENSP00000490538.1:n.*516_*518delinsTTG
ENST00000636078.1:n.1114_1116delinsTTG
ENST00000636147.2:c.992_994delinsTTG MANE Select ENSP00000490105.1:p.Phe331=
ENST00000636172.1:c.*516_*518delinsTTG ENSP00000490505.1:n.*516_*518delinsTTG
ENST00000636228.1:c.686_688delinsTTG ENSP00000489627.1:p.Phe229=
ENST00000636351.1:n.886_888delinsTTG
ENST00000636503.1:c.992_994delinsTTG ENSP00000489824.1:p.Phe331=
ENST00000636685.1:n.673_675delinsTTG
ENST00000636766.1:c.992_994delinsTTG ENSP00000489841.1:p.Phe331=
ENST00000636839.1:n.1366_1368delinsTTG
ENST00000636853.1:n.1907_1909delinsTTG
ENST00000636866.1:c.992_994delinsTTG ENSP00000490880.1:p.Phe331=
ENST00000636907.1:n.1143_1145delinsTTG
ENST00000636977.1:n.2362_2364delinsTTG
ENST00000637050.1:n.1381_1383delinsTTG
ENST00000637100.1:c.941_943delinsTTG ENSP00000490394.1:p.Phe314=
ENST00000637107.1:c.*516_*518delinsTTG ENSP00000490248.1:n.*516_*518delinsTTG
ENST00000637184.1:c.992_994delinsTTG ENSP00000489952.1:p.Phe331=
ENST00000637299.1:c.*801_*803delinsTTG ENSP00000489823.1:n.*801_*803delinsTTG
ENST00000637376.1:c.992_994delinsTTG ENSP00000490758.1:p.Phe331=
ENST00000637378.1:c.164_166delinsTTG ENSP00000490831.1:p.Phe55=
ENST00000637578.1:c.*516_*518delinsTTG ENSP00000490206.1:n.*516_*518delinsTTG
ENST00000637699.1:c.903_905delinsTTG ENSP00000490049.1:n.903_905delinsTTG
ENST00000637745.1:c.331_333delinsTTG
ENST00000637871.1:c.*690_*692delinsTTG ENSP00000490670.1:n.*690_*692delinsTTG
ENST00000638036.1:c.154_156delinsTTG
ENST00000333496.13:c.920_922delinsTTG ENSP00000329171.9:p.Phe307=
ENST00000355477.9:c.*229_*231delinsTTG ENSP00000347660.6:n.*229_*231delinsTTG
ENST00000357806.11:c.695_697delinsTTG ENSP00000350457.7:p.Phe232=
ENST00000357857.13:c.830_832delinsTTG ENSP00000350523.9:p.Phe277=
ENST00000359984.11:c.686_688delinsTTG ENSP00000353073.8:p.Phe229=
ENST00000360019.6:c.992_994delinsTTG ENSP00000353116.2:p.Phe331=
ENST00000395653.8:c.692_694delinsTTG ENSP00000379014.4:p.Phe231=
ENST00000561689.5:n.961_963delinsTTG
ENST00000563874.5:n.2520_2522delinsTTG
ENST00000564091.5:c.81_83delinsTTG
ENST00000565140.5:c.775_777delinsTTG ENSP00000455342.1:n.775_777delinsTTG
ENST00000565316.5:c.941_943delinsTTG ENSP00000456117.1:p.Phe314=
ENST00000565354.5:n.305_307delinsTTG
ENST00000566057.5:c.606_608delinsTTG ENSP00000456693.1:n.606_608delinsTTG
ENST00000567963.5:c.906+308_906+310delinsTTG ENSP00000455387.1:n.906+308_906+310delinsTTG
ENST00000568076.5:n.903_905delinsTTG
ENST00000568224.4:c.758_760delinsTTG ENSP00000454253.1:p.Phe253=
ENST00000568422.5:c.*229_*231delinsTTG ENSP00000455549.1:n.*229_*231delinsTTG
ENST00000568452.5:n.1120_1122delinsTTG
ENST00000568472.5:n.472_474delinsTTG
ENST00000568558.5:c.533_535delinsTTG ENSP00000455603.1:p.Phe178=
ENST00000569030.5:c.662_664delinsTTG ENSP00000454680.1:p.Phe221=
ENST00000569430.5:c.992_994delinsTTG ENSP00000454229.1:p.Phe331=
ENST00000628023.2:c.*288_*290delinsTTG ENSP00000486178.1:n.*288_*290delinsTTG
ENST00000631023.2:c.906+308_906+310delinsTTG ENSP00000486616.1:n.906+308_906+310delinsTTG
NM_000086.2:c.992_994delinsTTG , LRG_689t1:c.992_994delinsTTG NP_000077.1:p.Phe331=
NM_001042432.1:c.992_994delinsTTG , LRG_689t2:c.992_994delinsTTG NP_001035897.1:p.Phe331=
NM_001286104.1:c.920_922delinsTTG NP_001273033.1:p.Phe307=
NM_001286105.1:c.692_694delinsTTG NP_001273034.1:p.Phe231=
NM_001286109.1:c.758_760delinsTTG NP_001273038.1:p.Phe253=
NM_001286110.1:c.830_832delinsTTG NP_001273039.1:p.Phe277=
NM_001042432.2:c.992_994delinsTTG MANE Select NP_001035897.1:p.Phe331=
NM_001286104.2:c.920_922delinsTTG NP_001273033.1:p.Phe307=
NM_001286105.2:c.692_694delinsTTG NP_001273034.1:p.Phe231=
NM_001286109.2:c.758_760delinsTTG NP_001273038.1:p.Phe253=
NM_001286110.2:c.830_832delinsTTG NP_001273039.1:p.Phe277=