Canonical Allele Identifier: CA2627341026

Gene: UBE3A SNHG14

Linked Data

• gnomAD v4: 15-25340010-AGACAGTTCATAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.25340012_25340023del , CM000677.2:g.25340012_25340023del	GRCh38
NC_000015.9:g.25585159_25585170del , CM000677.1:g.25585159_25585170del	GRCh37
NC_000015.8:g.23136252_23136263del	NCBI36
NG_009268.1:g.103960_103971del , LRG_15:g.103960_103971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438097.6:c.2438+63_2438+74del (UBE3A)	ENSP00000411258.1:n.2438+63_2438+74del
ENST00000635914.1:c.*59_*70del (UBE3A)	ENSP00000490563.1:n.*59_*70del
ENST00000636667.1:c.35+63_35+74del (UBE3A)	ENSP00000489625.1:n.35+63_35+74del
ENST00000637886.1:c.2498+63_2498+74del (UBE3A)	ENSP00000490258.1:n.2498+63_2498+74del
ENST00000638011.1:c.2438+63_2438+74del (UBE3A)	ENSP00000490111.1:n.2438+63_2438+74del
ENST00000638155.1:c.2438+63_2438+74del (UBE3A)	ENSP00000490557.1:n.2438+63_2438+74del
ENST00000648336.2:c.2498+63_2498+74del (UBE3A) MANE Select	ENSP00000497572.2:n.2498+63_2498+74del
ENST00000649550.1:c.2438+63_2438+74del (UBE3A)	ENSP00000497549.1:n.2438+63_2438+74del
ENST00000650110.1:c.2507+63_2507+74del (UBE3A)	ENSP00000497594.1:n.2507+63_2507+74del
ENST00000675177.1:c.2321+63_2321+74del (UBE3A)	ENSP00000502703.1:n.2321+63_2321+74del
ENST00000232165.7:c.2438+63_2438+74del (UBE3A)	ENSP00000232165.5:n.2438+63_2438+74del
ENST00000397954.6:c.2507+63_2507+74del (UBE3A)	ENSP00000381045.2:n.2507+63_2507+74del
ENST00000428984.6:c.2438+63_2438+74del (UBE3A)	ENSP00000401265.2:n.2438+63_2438+74del
ENST00000438097.5:c.2438+63_2438+74del (UBE3A)	ENSP00000411258.1:n.2438+63_2438+74del
ENST00000566215.5:c.2438+63_2438+74del (UBE3A)	ENSP00000457771.1:n.2438+63_2438+74del
ENST00000604860.3:c.449+63_449+74del (UBE3A)	ENSP00000473822.2:n.449+63_449+74del
ENST00000614096.4:c.2498+63_2498+74del (UBE3A)	ENSP00000481796.1:n.2498+63_2498+74del
ENST00000626176.2:c.309+63_309+74del (UBE3A)
ENST00000630424.2:c.2438+63_2438+74del (UBE3A)	ENSP00000486349.1:n.2438+63_2438+74del
NM_000462.3:c.2507+63_2507+74del (UBE3A)	NP_000453.2:n.2507+63_2507+74del
NM_130838.1:c.2438+63_2438+74del , LRG_15t1:c.2438+63_2438+74del (UBE3A)	NP_570853.1:n.2438+63_2438+74del
NM_130839.2:c.2498+63_2498+74del (UBE3A)	NP_570854.1:n.2498+63_2498+74del
XM_005268267.3:c.2438+63_2438+74del (UBE3A)	XP_005268324.1:n.2438+63_2438+74del
XM_005268268.3:c.2438+63_2438+74del (UBE3A)	XP_005268325.1:n.2438+63_2438+74del
XM_005268269.3:c.2438+63_2438+74del (UBE3A)	XP_005268326.1:n.2438+63_2438+74del
XM_005268270.3:c.2438+63_2438+74del (UBE3A)	XP_005268327.1:n.2438+63_2438+74del
XM_005268271.3:c.2438+63_2438+74del (UBE3A)	XP_005268328.1:n.2438+63_2438+74del
XM_006720673.2:c.2498+63_2498+74del (UBE3A)	XP_006720736.1:n.2498+63_2498+74del
XM_006720674.2:c.2498+63_2498+74del (UBE3A)	XP_006720737.1:n.2498+63_2498+74del
XM_006720675.2:c.2438+63_2438+74del (UBE3A)	XP_006720738.1:n.2438+63_2438+74del
XM_006720676.2:c.2438+63_2438+74del (UBE3A)	XP_006720739.1:n.2438+63_2438+74del
XM_011521994.1:c.2507+63_2507+74del (UBE3A)	XP_011520296.1:n.2507+63_2507+74del
XM_011521995.1:c.2507+63_2507+74del (UBE3A)	XP_011520297.1:n.2507+63_2507+74del
XM_011521996.1:c.2438+63_2438+74del (UBE3A)	XP_011520298.1:n.2438+63_2438+74del
NM_000462.5:c.2507+63_2507+74del (UBE3A)	NP_000453.2:n.2507+63_2507+74del
NM_001354505.1:c.2498+63_2498+74del (UBE3A)	NP_001341434.1:n.2498+63_2498+74del
NM_001354506.1:c.2438+63_2438+74del (UBE3A)	NP_001341435.1:n.2438+63_2438+74del
NM_001354507.1:c.2438+63_2438+74del (UBE3A)	NP_001341436.1:n.2438+63_2438+74del
NM_001354508.1:c.2438+63_2438+74del (UBE3A)	NP_001341437.1:n.2438+63_2438+74del
NM_001354509.1:c.2438+63_2438+74del (UBE3A)	NP_001341438.1:n.2438+63_2438+74del
NM_001354511.1:c.2438+63_2438+74del (UBE3A)	NP_001341440.1:n.2438+63_2438+74del
NM_001354512.1:c.2438+63_2438+74del (UBE3A)	NP_001341441.1:n.2438+63_2438+74del
NM_001354513.1:c.2438+63_2438+74del (UBE3A)	NP_001341442.1:n.2438+63_2438+74del
NM_001354523.1:c.2438+63_2438+74del (UBE3A)	NP_001341452.1:n.2438+63_2438+74del
NM_001354526.1:c.2438+63_2438+74del (UBE3A)	NP_001341455.1:n.2438+63_2438+74del
NM_001354538.1:c.2498+63_2498+74del (UBE3A)	NP_001341467.1:n.2498+63_2498+74del
NM_001354539.1:c.2438+63_2438+74del (UBE3A)	NP_001341468.1:n.2438+63_2438+74del
NM_001354540.1:c.2438+63_2438+74del (UBE3A)	NP_001341469.1:n.2438+63_2438+74del
NM_001354541.1:c.2438+63_2438+74del (UBE3A)	NP_001341470.1:n.2438+63_2438+74del
NM_001354542.1:c.2438+63_2438+74del (UBE3A)	NP_001341471.1:n.2438+63_2438+74del
NM_001354543.1:c.2438+63_2438+74del (UBE3A)	NP_001341472.1:n.2438+63_2438+74del
NM_001354544.1:c.2438+63_2438+74del (UBE3A)	NP_001341473.1:n.2438+63_2438+74del
NM_001354545.1:c.2342+63_2342+74del (UBE3A)	NP_001341474.1:n.2342+63_2342+74del
NM_001354546.1:c.2321+63_2321+74del (UBE3A)	NP_001341475.1:n.2321+63_2321+74del
NM_001354547.1:c.2282+63_2282+74del (UBE3A)	NP_001341476.1:n.2282+63_2282+74del
NM_001354548.1:c.2282+63_2282+74del (UBE3A)	NP_001341477.1:n.2282+63_2282+74del
NM_001354549.1:c.2273+63_2273+74del (UBE3A)	NP_001341478.1:n.2273+63_2273+74del
NM_001354550.1:c.1247+63_1247+74del (UBE3A)	NP_001341479.1:n.1247+63_1247+74del
NM_001354551.1:c.1187+63_1187+74del (UBE3A)	NP_001341480.1:n.1187+63_1187+74del
NM_130838.3:c.2438+63_2438+74del (UBE3A)	NP_570853.1:n.2438+63_2438+74del
NM_130839.4:c.2498+63_2498+74del (UBE3A)	NP_570854.1:n.2498+63_2498+74del
NR_146177.1:n.18393-51584_18393-51573del (SNHG14)
NR_148916.1:n.3042+63_3042+74del (UBE3A)
XM_011521995.3:c.2507+63_2507+74del (UBE3A)	XP_011520297.1:n.2507+63_2507+74del
XM_017022547.2:c.2498+63_2498+74del (UBE3A)	XP_016878036.1:n.2498+63_2498+74del
XM_017022548.2:c.2498+63_2498+74del (UBE3A)	XP_016878037.1:n.2498+63_2498+74del
XM_017022550.2:c.2498+63_2498+74del (UBE3A)	XP_016878039.1:n.2498+63_2498+74del
XM_017022556.2:c.2351+63_2351+74del (UBE3A)	XP_016878045.1:n.2351+63_2351+74del
XM_024450043.1:c.2507+63_2507+74del (UBE3A)	XP_024305811.1:n.2507+63_2507+74del
XM_024450044.1:c.2438+63_2438+74del (UBE3A)	XP_024305812.1:n.2438+63_2438+74del
NM_001354506.2:c.2438+63_2438+74del (UBE3A)	NP_001341435.1:n.2438+63_2438+74del
NM_001354507.2:c.2438+63_2438+74del (UBE3A)	NP_001341436.1:n.2438+63_2438+74del
NM_001354508.2:c.2438+63_2438+74del (UBE3A)	NP_001341437.1:n.2438+63_2438+74del
NM_001354509.2:c.2438+63_2438+74del (UBE3A)	NP_001341438.1:n.2438+63_2438+74del
NM_001354511.2:c.2438+63_2438+74del (UBE3A)	NP_001341440.1:n.2438+63_2438+74del
NM_001354512.2:c.2438+63_2438+74del (UBE3A)	NP_001341441.1:n.2438+63_2438+74del
NM_001354513.2:c.2438+63_2438+74del (UBE3A)	NP_001341442.1:n.2438+63_2438+74del
NM_001354523.2:c.2438+63_2438+74del (UBE3A)	NP_001341452.1:n.2438+63_2438+74del
NM_001354538.2:c.2498+63_2498+74del (UBE3A)	NP_001341467.1:n.2498+63_2498+74del
NM_001354539.2:c.2438+63_2438+74del (UBE3A)	NP_001341468.1:n.2438+63_2438+74del
NM_001354540.2:c.2438+63_2438+74del (UBE3A)	NP_001341469.1:n.2438+63_2438+74del
NM_001354541.2:c.2438+63_2438+74del (UBE3A)	NP_001341470.1:n.2438+63_2438+74del
NM_001354542.2:c.2438+63_2438+74del (UBE3A)	NP_001341471.1:n.2438+63_2438+74del
NM_001354543.2:c.2438+63_2438+74del (UBE3A)	NP_001341472.1:n.2438+63_2438+74del
NM_001354544.2:c.2438+63_2438+74del (UBE3A)	NP_001341473.1:n.2438+63_2438+74del
NM_001354545.2:c.2342+63_2342+74del (UBE3A)	NP_001341474.1:n.2342+63_2342+74del
NM_001354546.2:c.2321+63_2321+74del (UBE3A)	NP_001341475.1:n.2321+63_2321+74del
NM_001354547.2:c.2282+63_2282+74del (UBE3A)	NP_001341476.1:n.2282+63_2282+74del
NM_001354548.2:c.2282+63_2282+74del (UBE3A)	NP_001341477.1:n.2282+63_2282+74del
NM_001354549.2:c.2273+63_2273+74del (UBE3A)	NP_001341478.1:n.2273+63_2273+74del
NM_001354550.2:c.1247+63_1247+74del (UBE3A)	NP_001341479.1:n.1247+63_1247+74del
NM_001354551.2:c.1187+63_1187+74del (UBE3A)	NP_001341480.1:n.1187+63_1187+74del
NM_001374461.1:c.2438+63_2438+74del (UBE3A)	NP_001361390.1:n.2438+63_2438+74del
NM_130838.4:c.2438+63_2438+74del (UBE3A)	NP_570853.1:n.2438+63_2438+74del
NM_130839.5:c.2498+63_2498+74del (UBE3A) MANE Select	NP_570854.1:n.2498+63_2498+74del
NR_148916.2:n.3010+63_3010+74del (UBE3A)