Canonical Allele Identifier: CA16043486
Gene: UBE3A HGNC NCBI
SNHG14 HGNC NCBI

Linked Data

ClinVar Variation Id: 373931
ClinVar RCV Id: RCV000414808
dbSNP Id: rs1057518777
MyVariant Identifiers: chr15:g.25584387_25584399dupGTATGAGATGTAG (hg19) chr15:g.25584386_25584387insGTATGAGATGTAG (hg19) chr15:g.25339240_25339252dupGTATGAGATGTAG (hg38) chr15:g.25339239_25339240insGTATGAGATGTAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.25339243_25339255dup , CM000677.2:g.25339243_25339255dup GRCh38
NC_000015.9:g.25584390_25584402dup , CM000677.1:g.25584390_25584402dup GRCh37
NC_000015.8:g.23135483_23135495dup NCBI36
NG_009268.1:g.104730_104742dup , LRG_15:g.104730_104742dup

Transcript Alleles

HGVS Amino-acid change
ENST00000438097.6:c.2444_2456dup (UBE3A) ENSP00000411258.1:p.Cys820TyrfsTer7
ENST00000635914.1:c.*829_*841dup (UBE3A) ENSP00000490563.1:n.*829_*841dup
ENST00000636667.1:c.41_53dup (UBE3A) ENSP00000489625.1:p.Cys19TyrfsTer7
ENST00000637886.1:c.2504_2516dup (UBE3A) ENSP00000490258.1:p.Cys840TyrfsTer7
ENST00000638011.1:c.2444_2456dup (UBE3A) ENSP00000490111.1:p.Cys820TyrfsTer7
ENST00000638155.1:c.2444_2456dup (UBE3A) ENSP00000490557.1:p.Cys820TyrfsTer7
ENST00000648336.2:c.2504_2516dup (UBE3A) MANE Select ENSP00000497572.2:p.Cys840TyrfsTer7
ENST00000649550.1:c.2444_2456dup (UBE3A) ENSP00000497549.1:p.Cys820TyrfsTer7
ENST00000650110.1:c.2513_2525dup (UBE3A) ENSP00000497594.1:p.Cys843TyrfsTer7
ENST00000675177.1:c.2327_2339dup (UBE3A) ENSP00000502703.1:p.Cys781TyrfsTer7
ENST00000232165.7:c.2444_2456dup (UBE3A) ENSP00000232165.5:p.Cys820TyrfsTer7
ENST00000397954.6:c.2513_2525dup (UBE3A) ENSP00000381045.2:p.Cys843TyrfsTer7
ENST00000428984.6:c.2444_2456dup (UBE3A) ENSP00000401265.2:p.Cys820TyrfsTer7
ENST00000438097.5:c.2444_2456dup (UBE3A) ENSP00000411258.1:p.Cys820TyrfsTer7
ENST00000566215.5:c.2444_2456dup (UBE3A) ENSP00000457771.1:p.Cys820TyrfsTer7
ENST00000604860.3:c.455_467dup (UBE3A) ENSP00000473822.2:p.Cys157TyrfsTer7
ENST00000614096.4:c.2504_2516dup (UBE3A) ENSP00000481796.1:p.Cys840TyrfsTer7
ENST00000626176.2:c.315_327dup (UBE3A)
ENST00000630424.2:c.2444_2456dup (UBE3A) ENSP00000486349.1:p.Cys820TyrfsTer7
NM_000462.3:c.2513_2525dup (UBE3A) NP_000453.2:p.Cys843TyrfsTer7
NM_130838.1:c.2444_2456dup , LRG_15t1:c.2444_2456dup (UBE3A) NP_570853.1:p.Cys820TyrfsTer7
NM_130839.2:c.2504_2516dup (UBE3A) NP_570854.1:p.Cys840TyrfsTer7
XM_005268267.3:c.2444_2456dup (UBE3A) XP_005268324.1:p.Cys820TyrfsTer7
XM_005268268.3:c.2444_2456dup (UBE3A) XP_005268325.1:p.Cys820TyrfsTer7
XM_005268269.3:c.2444_2456dup (UBE3A) XP_005268326.1:p.Cys820TyrfsTer7
XM_005268270.3:c.2444_2456dup (UBE3A) XP_005268327.1:p.Cys820TyrfsTer7
XM_005268271.3:c.2444_2456dup (UBE3A) XP_005268328.1:p.Cys820TyrfsTer7
XM_006720673.2:c.2504_2516dup (UBE3A) XP_006720736.1:p.Cys840TyrfsTer7
XM_006720674.2:c.2504_2516dup (UBE3A) XP_006720737.1:p.Cys840TyrfsTer7
XM_006720675.2:c.2444_2456dup (UBE3A) XP_006720738.1:p.Cys820TyrfsTer7
XM_006720676.2:c.2444_2456dup (UBE3A) XP_006720739.1:p.Cys820TyrfsTer7
XM_011521994.1:c.2513_2525dup (UBE3A) XP_011520296.1:p.Cys843TyrfsTer7
XM_011521995.1:c.2513_2525dup (UBE3A) XP_011520297.1:p.Cys843TyrfsTer7
XM_011521996.1:c.2444_2456dup (UBE3A) XP_011520298.1:p.Cys820TyrfsTer7
NM_000462.5:c.2513_2525dup (UBE3A) NP_000453.2:p.Cys843TyrfsTer7
NM_001354505.1:c.2504_2516dup (UBE3A) NP_001341434.1:p.Cys840TyrfsTer7
NM_001354506.1:c.2444_2456dup (UBE3A) NP_001341435.1:p.Cys820TyrfsTer7
NM_001354507.1:c.2444_2456dup (UBE3A) NP_001341436.1:p.Cys820TyrfsTer7
NM_001354508.1:c.2444_2456dup (UBE3A) NP_001341437.1:p.Cys820TyrfsTer7
NM_001354509.1:c.2444_2456dup (UBE3A) NP_001341438.1:p.Cys820TyrfsTer7
NM_001354511.1:c.2444_2456dup (UBE3A) NP_001341440.1:p.Cys820TyrfsTer7
NM_001354512.1:c.2444_2456dup (UBE3A) NP_001341441.1:p.Cys820TyrfsTer7
NM_001354513.1:c.2444_2456dup (UBE3A) NP_001341442.1:p.Cys820TyrfsTer7
NM_001354523.1:c.2444_2456dup (UBE3A) NP_001341452.1:p.Cys820TyrfsTer7
NM_001354526.1:c.2444_2456dup (UBE3A) NP_001341455.1:p.Cys820TyrfsTer7
NM_001354538.1:c.2504_2516dup (UBE3A) NP_001341467.1:p.Cys840TyrfsTer7
NM_001354539.1:c.2444_2456dup (UBE3A) NP_001341468.1:p.Cys820TyrfsTer7
NM_001354540.1:c.2444_2456dup (UBE3A) NP_001341469.1:p.Cys820TyrfsTer7
NM_001354541.1:c.2444_2456dup (UBE3A) NP_001341470.1:p.Cys820TyrfsTer7
NM_001354542.1:c.2444_2456dup (UBE3A) NP_001341471.1:p.Cys820TyrfsTer7
NM_001354543.1:c.2444_2456dup (UBE3A) NP_001341472.1:p.Cys820TyrfsTer7
NM_001354544.1:c.2444_2456dup (UBE3A) NP_001341473.1:p.Cys820TyrfsTer7
NM_001354545.1:c.2348_2360dup (UBE3A) NP_001341474.1:p.Cys788TyrfsTer7
NM_001354546.1:c.2327_2339dup (UBE3A) NP_001341475.1:p.Cys781TyrfsTer7
NM_001354547.1:c.2288_2300dup (UBE3A) NP_001341476.1:p.Cys768TyrfsTer7
NM_001354548.1:c.2288_2300dup (UBE3A) NP_001341477.1:p.Cys768TyrfsTer7
NM_001354549.1:c.2279_2291dup (UBE3A) NP_001341478.1:p.Cys765TyrfsTer7
NM_001354550.1:c.1253_1265dup (UBE3A) NP_001341479.1:p.Cys423TyrfsTer7
NM_001354551.1:c.1193_1205dup (UBE3A) NP_001341480.1:p.Cys403TyrfsTer7
NM_130838.3:c.2444_2456dup (UBE3A) NP_570853.1:p.Cys820TyrfsTer7
NM_130839.4:c.2504_2516dup (UBE3A) NP_570854.1:p.Cys840TyrfsTer7
NR_146177.1:n.18393-52353_18393-52341dup (SNHG14)
NR_148916.1:n.3048_3060dup (UBE3A)
XM_011521995.3:c.2513_2525dup (UBE3A) XP_011520297.1:p.Cys843TyrfsTer7
XM_017022547.2:c.2504_2516dup (UBE3A) XP_016878036.1:p.Cys840TyrfsTer7
XM_017022548.2:c.2504_2516dup (UBE3A) XP_016878037.1:p.Cys840TyrfsTer7
XM_017022550.2:c.2504_2516dup (UBE3A) XP_016878039.1:p.Cys840TyrfsTer7
XM_017022556.2:c.2357_2369dup (UBE3A) XP_016878045.1:p.Cys791TyrfsTer7
XM_024450043.1:c.2513_2525dup (UBE3A) XP_024305811.1:p.Cys843TyrfsTer7
XM_024450044.1:c.2444_2456dup (UBE3A) XP_024305812.1:p.Cys820TyrfsTer7
NM_001354506.2:c.2444_2456dup (UBE3A) NP_001341435.1:p.Cys820TyrfsTer7
NM_001354507.2:c.2444_2456dup (UBE3A) NP_001341436.1:p.Cys820TyrfsTer7
NM_001354508.2:c.2444_2456dup (UBE3A) NP_001341437.1:p.Cys820TyrfsTer7
NM_001354509.2:c.2444_2456dup (UBE3A) NP_001341438.1:p.Cys820TyrfsTer7
NM_001354511.2:c.2444_2456dup (UBE3A) NP_001341440.1:p.Cys820TyrfsTer7
NM_001354512.2:c.2444_2456dup (UBE3A) NP_001341441.1:p.Cys820TyrfsTer7
NM_001354513.2:c.2444_2456dup (UBE3A) NP_001341442.1:p.Cys820TyrfsTer7
NM_001354523.2:c.2444_2456dup (UBE3A) NP_001341452.1:p.Cys820TyrfsTer7
NM_001354538.2:c.2504_2516dup (UBE3A) NP_001341467.1:p.Cys840TyrfsTer7
NM_001354539.2:c.2444_2456dup (UBE3A) NP_001341468.1:p.Cys820TyrfsTer7
NM_001354540.2:c.2444_2456dup (UBE3A) NP_001341469.1:p.Cys820TyrfsTer7
NM_001354541.2:c.2444_2456dup (UBE3A) NP_001341470.1:p.Cys820TyrfsTer7
NM_001354542.2:c.2444_2456dup (UBE3A) NP_001341471.1:p.Cys820TyrfsTer7
NM_001354543.2:c.2444_2456dup (UBE3A) NP_001341472.1:p.Cys820TyrfsTer7
NM_001354544.2:c.2444_2456dup (UBE3A) NP_001341473.1:p.Cys820TyrfsTer7
NM_001354545.2:c.2348_2360dup (UBE3A) NP_001341474.1:p.Cys788TyrfsTer7
NM_001354546.2:c.2327_2339dup (UBE3A) NP_001341475.1:p.Cys781TyrfsTer7
NM_001354547.2:c.2288_2300dup (UBE3A) NP_001341476.1:p.Cys768TyrfsTer7
NM_001354548.2:c.2288_2300dup (UBE3A) NP_001341477.1:p.Cys768TyrfsTer7
NM_001354549.2:c.2279_2291dup (UBE3A) NP_001341478.1:p.Cys765TyrfsTer7
NM_001354550.2:c.1253_1265dup (UBE3A) NP_001341479.1:p.Cys423TyrfsTer7
NM_001354551.2:c.1193_1205dup (UBE3A) NP_001341480.1:p.Cys403TyrfsTer7
NM_001374461.1:c.2444_2456dup (UBE3A) NP_001361390.1:p.Cys820TyrfsTer7
NM_130838.4:c.2444_2456dup (UBE3A) NP_570853.1:p.Cys820TyrfsTer7
NM_130839.5:c.2504_2516dup (UBE3A) MANE Select NP_570854.1:p.Cys840TyrfsTer7
NR_148916.2:n.3016_3028dup (UBE3A)
Search 100 bp 5'
Search 100 bp 3'