Canonical Allele Identifier: CA2695223056
Gene: CLN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28482118_28482123del , CM000678.2:g.28482118_28482123del GRCh38
NC_000016.9:g.28493439_28493444del , CM000678.1:g.28493439_28493444del GRCh37
NC_000016.8:g.28400940_28400945del NCBI36
NG_008654.2:g.15187_15192del , LRG_689:g.15187_15192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333496.14:c.973_978del ENSP00000329171.9:p.Ala325_Leu326del
ENST00000355477.10:c.901_906del ENSP00000347660.7:p.Ala301_Leu302del
ENST00000357857.14:c.883_888del ENSP00000350523.9:p.Ala295_Leu296del
ENST00000359984.12:c.1045_1050del ENSP00000353073.9:p.Ala349_Leu350del
ENST00000360019.8:c.973_978del ENSP00000353116.3:p.Ala325_Leu326del
ENST00000395653.9:c.586_591del ENSP00000379014.5:p.Ala196_Leu197del
ENST00000561689.6:n.1458_1463del
ENST00000564091.6:c.385_390del ENSP00000454466.2:p.Ala129_Leu130del
ENST00000565316.6:c.994_999del ENSP00000456117.1:p.Ala332_Leu333del
ENST00000566824.6:n.1105_1110del
ENST00000567963.6:c.883_888del ENSP00000455387.2:p.Ala295_Leu296del
ENST00000568076.6:n.1474_1479del
ENST00000568422.6:c.*282_*287del ENSP00000455549.2:n.*282_*287del
ENST00000568452.6:n.1276_1281del
ENST00000568497.6:c.76_81del ENSP00000456414.2:p.Ala26_Leu27del
ENST00000569430.7:c.1045_1050del ENSP00000454229.1:p.Ala349_Leu350del
ENST00000628023.3:c.*341_*346del ENSP00000486178.1:n.*341_*346del
ENST00000635861.1:c.*697_*702del ENSP00000490034.1:n.*697_*702del
ENST00000635887.1:c.1045_1050del ENSP00000490709.1:p.Ala349_Leu350del
ENST00000635958.1:n.1330_1335del
ENST00000635973.1:c.796_801del ENSP00000490363.1:p.Ala266_Leu267del
ENST00000636017.1:c.*569_*574del ENSP00000490538.1:n.*569_*574del
ENST00000636078.1:n.1167_1172del
ENST00000636147.2:c.1045_1050del MANE Select ENSP00000490105.1:p.Ala349_Leu350del
ENST00000636172.1:c.*569_*574del ENSP00000490505.1:n.*569_*574del
ENST00000636228.1:c.739_744del ENSP00000489627.1:p.Ala247_Leu248del
ENST00000636351.1:n.939_944del
ENST00000636503.1:c.1045_1050del ENSP00000489824.1:p.Ala349_Leu350del
ENST00000636685.1:n.726_731del
ENST00000636766.1:c.1045_1050del ENSP00000489841.1:p.Ala349_Leu350del
ENST00000636839.1:n.1419_1424del
ENST00000636853.1:n.1960_1965del
ENST00000636866.1:c.1045_1050del ENSP00000490880.1:p.Ala349_Leu350del
ENST00000636907.1:n.1196_1201del
ENST00000636977.1:n.2415_2420del
ENST00000637050.1:n.1434_1439del
ENST00000637100.1:c.994_999del ENSP00000490394.1:p.Ala332_Leu333del
ENST00000637107.1:c.*569_*574del ENSP00000490248.1:n.*569_*574del
ENST00000637184.1:c.1045_1050del ENSP00000489952.1:p.Ala349_Leu350del
ENST00000637299.1:c.*854_*859del ENSP00000489823.1:n.*854_*859del
ENST00000637376.1:c.1045_1050del ENSP00000490758.1:p.Ala349_Leu350del
ENST00000637378.1:c.217_222del ENSP00000490831.1:p.Ala73_Leu74del
ENST00000637578.1:c.*569_*574del ENSP00000490206.1:n.*569_*574del
ENST00000637699.1:c.956_961del ENSP00000490049.1:n.956_961del
ENST00000637745.1:c.384_389del
ENST00000637871.1:c.*743_*748del ENSP00000490670.1:n.*743_*748del
ENST00000638036.1:c.207_212del
ENST00000333496.13:c.973_978del ENSP00000329171.9:p.Ala325_Leu326del
ENST00000355477.9:c.*282_*287del ENSP00000347660.6:n.*282_*287del
ENST00000357806.11:c.748_753del ENSP00000350457.7:p.Ala250_Leu251del
ENST00000357857.13:c.883_888del ENSP00000350523.9:p.Ala295_Leu296del
ENST00000359984.11:c.739_744del ENSP00000353073.8:p.Ala247_Leu248del
ENST00000360019.6:c.1045_1050del ENSP00000353116.2:p.Ala349_Leu350del
ENST00000395653.8:c.745_750del ENSP00000379014.4:p.Ala249_Leu250del
ENST00000561689.5:n.1014_1019del
ENST00000563874.5:n.2573_2578del
ENST00000564091.5:c.134_139del
ENST00000565140.5:c.828_833del ENSP00000455342.1:n.828_833del
ENST00000565316.5:c.994_999del ENSP00000456117.1:p.Ala332_Leu333del
ENST00000565354.5:n.358_363del
ENST00000566057.5:c.659_664del ENSP00000456693.1:n.659_664del
ENST00000567963.5:c.906+361_906+366del ENSP00000455387.1:n.906+361_906+366del
ENST00000568076.5:n.956_961del
ENST00000568224.4:c.811_816del ENSP00000454253.1:p.Ala271_Leu272del
ENST00000568422.5:c.*282_*287del ENSP00000455549.1:n.*282_*287del
ENST00000568452.5:n.1173_1178del
ENST00000569030.5:c.715_720del ENSP00000454680.1:p.Ala239_Leu240del
ENST00000569430.5:c.1045_1050del ENSP00000454229.1:p.Ala349_Leu350del
ENST00000628023.2:c.*341_*346del ENSP00000486178.1:n.*341_*346del
ENST00000631023.2:c.906+361_906+366del ENSP00000486616.1:n.906+361_906+366del
NM_000086.2:c.1045_1050del , LRG_689t1:c.1045_1050del NP_000077.1:p.Ala349_Leu350del
NM_001042432.1:c.1045_1050del , LRG_689t2:c.1045_1050del NP_001035897.1:p.Ala349_Leu350del
NM_001286104.1:c.973_978del NP_001273033.1:p.Ala325_Leu326del
NM_001286105.1:c.745_750del NP_001273034.1:p.Ala249_Leu250del
NM_001286109.1:c.811_816del NP_001273038.1:p.Ala271_Leu272del
NM_001286110.1:c.883_888del NP_001273039.1:p.Ala295_Leu296del
NM_001042432.2:c.1045_1050del MANE Select NP_001035897.1:p.Ala349_Leu350del
NM_001286104.2:c.973_978del NP_001273033.1:p.Ala325_Leu326del
NM_001286105.2:c.745_750del NP_001273034.1:p.Ala249_Leu250del
NM_001286109.2:c.811_816del NP_001273038.1:p.Ala271_Leu272del
NM_001286110.2:c.883_888del NP_001273039.1:p.Ala295_Leu296del