Canonical Allele Identifier: CA1139667031

Gene: UBE3A SNHG14

Linked Data

• ClinVar Variation Id: 995996
• ClinVar RCV Id: RCV001290256
• dbSNP Id: rs2074511604

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.25340229del , CM000677.2:g.25340229del	GRCh38
NC_000015.9:g.25585376del , CM000677.1:g.25585376del	GRCh37
NC_000015.8:g.23136469del	NCBI36
NG_009268.1:g.103755del , LRG_15:g.103755del

Transcript Alleles

HGVS	Amino-acid change
ENST00000438097.6:c.2296del (UBE3A)
ENST00000635914.1:c.2296del (UBE3A)
ENST00000636667.1:c.-108del (UBE3A)
ENST00000637886.1:c.2356del (UBE3A)
ENST00000638011.1:c.2296del (UBE3A)
ENST00000638155.1:c.2296del (UBE3A)
ENST00000648336.2:c.2356del (UBE3A)
ENST00000649550.1:c.2296del (UBE3A)
ENST00000650110.1:c.2365del (UBE3A)
ENST00000675177.1:c.2179del (UBE3A)
ENST00000675593.1:n.5052del (UBE3A)
ENST00000232165.7:c.2296del (UBE3A)
ENST00000397954.6:c.2365del (UBE3A)
ENST00000428984.6:c.2296del (UBE3A)
ENST00000438097.5:c.2296del (UBE3A)
ENST00000566215.5:c.2296del (UBE3A)
ENST00000604860.3:c.307del (UBE3A)
ENST00000614096.4:c.2356del (UBE3A)
ENST00000626176.2:c.167del (UBE3A)
ENST00000630424.2:c.2296del (UBE3A)
NM_000462.3:c.2365del (UBE3A)
NM_130838.1:c.2296del , LRG_15t1:c.2296del (UBE3A)
NM_130839.2:c.2356del (UBE3A)
XM_005268267.3:c.2296del (UBE3A)
XM_005268268.3:c.2296del (UBE3A)
XM_005268269.3:c.2296del (UBE3A)
XM_005268270.3:c.2296del (UBE3A)
XM_005268271.3:c.2296del (UBE3A)
XM_006720673.2:c.2356del (UBE3A)
XM_006720674.2:c.2356del (UBE3A)
XM_006720675.2:c.2296del (UBE3A)
XM_006720676.2:c.2296del (UBE3A)
XM_011521994.1:c.2365del (UBE3A)
XM_011521995.1:c.2365del (UBE3A)
XM_011521996.1:c.2296del (UBE3A)
NM_000462.5:c.2365del (UBE3A)
NM_001354505.1:c.2356del (UBE3A)
NM_001354506.1:c.2296del (UBE3A)
NM_001354507.1:c.2296del (UBE3A)
NM_001354508.1:c.2296del (UBE3A)
NM_001354509.1:c.2296del (UBE3A)
NM_001354511.1:c.2296del (UBE3A)
NM_001354512.1:c.2296del (UBE3A)
NM_001354513.1:c.2296del (UBE3A)
NM_001354523.1:c.2296del (UBE3A)
NM_001354526.1:c.2296del (UBE3A)
NM_001354538.1:c.2356del (UBE3A)
NM_001354539.1:c.2296del (UBE3A)
NM_001354540.1:c.2296del (UBE3A)
NM_001354541.1:c.2296del (UBE3A)
NM_001354542.1:c.2296del (UBE3A)
NM_001354543.1:c.2296del (UBE3A)
NM_001354544.1:c.2296del (UBE3A)
NM_001354545.1:c.2200del (UBE3A)
NM_001354546.1:c.2179del (UBE3A)
NM_001354547.1:c.2140del (UBE3A)
NM_001354548.1:c.2140del (UBE3A)
NM_001354549.1:c.2131del (UBE3A)
NM_001354550.1:c.1105del (UBE3A)
NM_001354551.1:c.1045del (UBE3A)
NM_130838.3:c.2296del (UBE3A)
NM_130839.4:c.2356del (UBE3A)
NR_146177.1:n.18393-51367del (SNHG14)
NR_148916.1:n.2900del (UBE3A)
XM_011521995.3:c.2365del (UBE3A)
XM_017022547.2:c.2356del (UBE3A)
XM_017022548.2:c.2356del (UBE3A)
XM_017022550.2:c.2356del (UBE3A)
XM_017022556.2:c.2209del (UBE3A)
XM_024450043.1:c.2365del (UBE3A)
XM_024450044.1:c.2296del (UBE3A)
NM_001354506.2:c.2296del (UBE3A)
NM_001354507.2:c.2296del (UBE3A)
NM_001354508.2:c.2296del (UBE3A)
NM_001354509.2:c.2296del (UBE3A)
NM_001354511.2:c.2296del (UBE3A)
NM_001354512.2:c.2296del (UBE3A)
NM_001354513.2:c.2296del (UBE3A)
NM_001354523.2:c.2296del (UBE3A)
NM_001354538.2:c.2356del (UBE3A)
NM_001354539.2:c.2296del (UBE3A)
NM_001354540.2:c.2296del (UBE3A)
NM_001354541.2:c.2296del (UBE3A)
NM_001354542.2:c.2296del (UBE3A)
NM_001354543.2:c.2296del (UBE3A)
NM_001354544.2:c.2296del (UBE3A)
NM_001354545.2:c.2200del (UBE3A)
NM_001354546.2:c.2179del (UBE3A)
NM_001354547.2:c.2140del (UBE3A)
NM_001354548.2:c.2140del (UBE3A)
NM_001354549.2:c.2131del (UBE3A)
NM_001354550.2:c.1105del (UBE3A)
NM_001354551.2:c.1045del (UBE3A)
NM_001374461.1:c.2296del (UBE3A)
NM_130838.4:c.2296del (UBE3A)
NM_130839.5:c.2356del (UBE3A)
NR_148916.2:n.2868del (UBE3A)