Canonical Allele Identifier: CA16044019
Gene: UBE3A HGNC NCBI
SNHG14 HGNC NCBI

Linked Data

ClinVar Variation Id: 375262
ClinVar RCV Id: RCV000416334
dbSNP Id: rs1057519062
MyVariant Identifiers: chr15:g.25584334_25584350del (hg19) chr15:g.25339187_25339203del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.25339190_25339206del , CM000677.2:g.25339190_25339206del GRCh38
NC_000015.9:g.25584337_25584353del , CM000677.1:g.25584337_25584353del GRCh37
NC_000015.8:g.23135430_23135446del NCBI36
NG_009268.1:g.104779_104795del , LRG_15:g.104779_104795del

Transcript Alleles

HGVS Amino-acid change
ENST00000438097.6:c.2493_2509del (UBE3A) ENSP00000411258.1:p.Ser831ArgfsTer24
ENST00000635914.1:c.*878_*894del (UBE3A) ENSP00000490563.1:n.*878_*894del
ENST00000636667.1:c.90_106del (UBE3A) ENSP00000489625.1:p.Ser30ArgfsTer24
ENST00000637886.1:c.2553_2569del (UBE3A) ENSP00000490258.1:p.Ser851ArgfsTer24
ENST00000638011.1:c.2493_2509del (UBE3A) ENSP00000490111.1:p.Ser831ArgfsTer24
ENST00000638155.1:c.2493_2509del (UBE3A) ENSP00000490557.1:p.Ser831ArgfsTer24
ENST00000648336.2:c.2553_2569del (UBE3A) MANE Select ENSP00000497572.2:p.Ser851ArgfsTer24
ENST00000649550.1:c.2493_2509del (UBE3A) ENSP00000497549.1:p.Ser831ArgfsTer24
ENST00000650110.1:c.2562_2578del (UBE3A) ENSP00000497594.1:p.Ser854ArgfsTer24
ENST00000675177.1:c.2376_2392del (UBE3A) ENSP00000502703.1:p.Ser792ArgfsTer?
ENST00000232165.7:c.2493_2509del (UBE3A) ENSP00000232165.5:p.Ser831ArgfsTer24
ENST00000397954.6:c.2562_2578del (UBE3A) ENSP00000381045.2:p.Ser854ArgfsTer?
ENST00000428984.6:c.2493_2509del (UBE3A) ENSP00000401265.2:p.Ser831ArgfsTer24
ENST00000438097.5:c.2493_2509del (UBE3A) ENSP00000411258.1:p.Ser831ArgfsTer?
ENST00000566215.5:c.2493_2509del (UBE3A) ENSP00000457771.1:p.Ser831ArgfsTer24
ENST00000604860.3:c.504_520del (UBE3A) ENSP00000473822.2:p.Ser168ArgfsTer?
ENST00000614096.4:c.2553_2569del (UBE3A) ENSP00000481796.1:p.Ser851ArgfsTer24
ENST00000626176.2:c.364_380del (UBE3A)
ENST00000630424.2:c.2493_2509del (UBE3A) ENSP00000486349.1:p.Ser831ArgfsTer24
NM_000462.3:c.2562_2578del (UBE3A) NP_000453.2:p.Ser854ArgfsTer24
NM_130838.1:c.2493_2509del , LRG_15t1:c.2493_2509del (UBE3A) NP_570853.1:p.Ser831ArgfsTer24
NM_130839.2:c.2553_2569del (UBE3A) NP_570854.1:p.Ser851ArgfsTer24
XM_005268267.3:c.2493_2509del (UBE3A) XP_005268324.1:p.Ser831ArgfsTer24
XM_005268268.3:c.2493_2509del (UBE3A) XP_005268325.1:p.Ser831ArgfsTer24
XM_005268269.3:c.2493_2509del (UBE3A) XP_005268326.1:p.Ser831ArgfsTer24
XM_005268270.3:c.2493_2509del (UBE3A) XP_005268327.1:p.Ser831ArgfsTer24
XM_005268271.3:c.2493_2509del (UBE3A) XP_005268328.1:p.Ser831ArgfsTer24
XM_006720673.2:c.2553_2569del (UBE3A) XP_006720736.1:p.Ser851ArgfsTer24
XM_006720674.2:c.2553_2569del (UBE3A) XP_006720737.1:p.Ser851ArgfsTer24
XM_006720675.2:c.2493_2509del (UBE3A) XP_006720738.1:p.Ser831ArgfsTer24
XM_006720676.2:c.2493_2509del (UBE3A) XP_006720739.1:p.Ser831ArgfsTer24
XM_011521994.1:c.2562_2578del (UBE3A) XP_011520296.1:p.Ser854ArgfsTer24
XM_011521995.1:c.2562_2578del (UBE3A) XP_011520297.1:p.Ser854ArgfsTer24
XM_011521996.1:c.2493_2509del (UBE3A) XP_011520298.1:p.Ser831ArgfsTer24
NM_000462.5:c.2562_2578del (UBE3A) NP_000453.2:p.Ser854ArgfsTer24
NM_001354505.1:c.2553_2569del (UBE3A) NP_001341434.1:p.Ser851ArgfsTer24
NM_001354506.1:c.2493_2509del (UBE3A) NP_001341435.1:p.Ser831ArgfsTer24
NM_001354507.1:c.2493_2509del (UBE3A) NP_001341436.1:p.Ser831ArgfsTer24
NM_001354508.1:c.2493_2509del (UBE3A) NP_001341437.1:p.Ser831ArgfsTer24
NM_001354509.1:c.2493_2509del (UBE3A) NP_001341438.1:p.Ser831ArgfsTer24
NM_001354511.1:c.2493_2509del (UBE3A) NP_001341440.1:p.Ser831ArgfsTer24
NM_001354512.1:c.2493_2509del (UBE3A) NP_001341441.1:p.Ser831ArgfsTer24
NM_001354513.1:c.2493_2509del (UBE3A) NP_001341442.1:p.Ser831ArgfsTer24
NM_001354523.1:c.2493_2509del (UBE3A) NP_001341452.1:p.Ser831ArgfsTer24
NM_001354526.1:c.2493_2509del (UBE3A) NP_001341455.1:p.Ser831ArgfsTer24
NM_001354538.1:c.2553_2569del (UBE3A) NP_001341467.1:p.Ser851ArgfsTer24
NM_001354539.1:c.2493_2509del (UBE3A) NP_001341468.1:p.Ser831ArgfsTer24
NM_001354540.1:c.2493_2509del (UBE3A) NP_001341469.1:p.Ser831ArgfsTer24
NM_001354541.1:c.2493_2509del (UBE3A) NP_001341470.1:p.Ser831ArgfsTer24
NM_001354542.1:c.2493_2509del (UBE3A) NP_001341471.1:p.Ser831ArgfsTer24
NM_001354543.1:c.2493_2509del (UBE3A) NP_001341472.1:p.Ser831ArgfsTer24
NM_001354544.1:c.2493_2509del (UBE3A) NP_001341473.1:p.Ser831ArgfsTer24
NM_001354545.1:c.2397_2413del (UBE3A) NP_001341474.1:p.Ser799ArgfsTer24
NM_001354546.1:c.2376_2392del (UBE3A) NP_001341475.1:p.Ser792ArgfsTer24
NM_001354547.1:c.2337_2353del (UBE3A) NP_001341476.1:p.Ser779ArgfsTer24
NM_001354548.1:c.2337_2353del (UBE3A) NP_001341477.1:p.Ser779ArgfsTer24
NM_001354549.1:c.2328_2344del (UBE3A) NP_001341478.1:p.Ser776ArgfsTer24
NM_001354550.1:c.1302_1318del (UBE3A) NP_001341479.1:p.Ser434ArgfsTer24
NM_001354551.1:c.1242_1258del (UBE3A) NP_001341480.1:p.Ser414ArgfsTer24
NM_130838.3:c.2493_2509del (UBE3A) NP_570853.1:p.Ser831ArgfsTer24
NM_130839.4:c.2553_2569del (UBE3A) NP_570854.1:p.Ser851ArgfsTer24
NR_146177.1:n.18393-52406_18393-52390del (SNHG14)
NR_148916.1:n.3097_3113del (UBE3A)
XM_011521995.3:c.2562_2578del (UBE3A) XP_011520297.1:p.Ser854ArgfsTer24
XM_017022547.2:c.2553_2569del (UBE3A) XP_016878036.1:p.Ser851ArgfsTer24
XM_017022548.2:c.2553_2569del (UBE3A) XP_016878037.1:p.Ser851ArgfsTer24
XM_017022550.2:c.2553_2569del (UBE3A) XP_016878039.1:p.Ser851ArgfsTer24
XM_017022556.2:c.2406_2422del (UBE3A) XP_016878045.1:p.Ser802ArgfsTer24
XM_024450043.1:c.2562_2578del (UBE3A) XP_024305811.1:p.Ser854ArgfsTer24
XM_024450044.1:c.2493_2509del (UBE3A) XP_024305812.1:p.Ser831ArgfsTer24
NM_001354506.2:c.2493_2509del (UBE3A) NP_001341435.1:p.Ser831ArgfsTer24
NM_001354507.2:c.2493_2509del (UBE3A) NP_001341436.1:p.Ser831ArgfsTer24
NM_001354508.2:c.2493_2509del (UBE3A) NP_001341437.1:p.Ser831ArgfsTer24
NM_001354509.2:c.2493_2509del (UBE3A) NP_001341438.1:p.Ser831ArgfsTer24
NM_001354511.2:c.2493_2509del (UBE3A) NP_001341440.1:p.Ser831ArgfsTer24
NM_001354512.2:c.2493_2509del (UBE3A) NP_001341441.1:p.Ser831ArgfsTer24
NM_001354513.2:c.2493_2509del (UBE3A) NP_001341442.1:p.Ser831ArgfsTer24
NM_001354523.2:c.2493_2509del (UBE3A) NP_001341452.1:p.Ser831ArgfsTer24
NM_001354538.2:c.2553_2569del (UBE3A) NP_001341467.1:p.Ser851ArgfsTer24
NM_001354539.2:c.2493_2509del (UBE3A) NP_001341468.1:p.Ser831ArgfsTer24
NM_001354540.2:c.2493_2509del (UBE3A) NP_001341469.1:p.Ser831ArgfsTer24
NM_001354541.2:c.2493_2509del (UBE3A) NP_001341470.1:p.Ser831ArgfsTer24
NM_001354542.2:c.2493_2509del (UBE3A) NP_001341471.1:p.Ser831ArgfsTer24
NM_001354543.2:c.2493_2509del (UBE3A) NP_001341472.1:p.Ser831ArgfsTer24
NM_001354544.2:c.2493_2509del (UBE3A) NP_001341473.1:p.Ser831ArgfsTer24
NM_001354545.2:c.2397_2413del (UBE3A) NP_001341474.1:p.Ser799ArgfsTer24
NM_001354546.2:c.2376_2392del (UBE3A) NP_001341475.1:p.Ser792ArgfsTer24
NM_001354547.2:c.2337_2353del (UBE3A) NP_001341476.1:p.Ser779ArgfsTer24
NM_001354548.2:c.2337_2353del (UBE3A) NP_001341477.1:p.Ser779ArgfsTer24
NM_001354549.2:c.2328_2344del (UBE3A) NP_001341478.1:p.Ser776ArgfsTer24
NM_001354550.2:c.1302_1318del (UBE3A) NP_001341479.1:p.Ser434ArgfsTer24
NM_001354551.2:c.1242_1258del (UBE3A) NP_001341480.1:p.Ser414ArgfsTer24
NM_001374461.1:c.2493_2509del (UBE3A) NP_001361390.1:p.Ser831ArgfsTer24
NM_130838.4:c.2493_2509del (UBE3A) NP_570853.1:p.Ser831ArgfsTer24
NM_130839.5:c.2553_2569del (UBE3A) MANE Select NP_570854.1:p.Ser851ArgfsTer24
NR_148916.2:n.3065_3081del (UBE3A)
Search 100 bp 5'
Search 100 bp 3'