Canonical Allele Identifier: CA2797410930

Gene: UBE3B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109521356_109521357insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA , CM000674.2:g.109521356_109521357insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	GRCh38
NC_000012.11:g.109959161_109959162insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA , CM000674.1:g.109959161_109959162insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	GRCh37
NC_000012.10:g.108443544_108443545insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	NCBI36
NG_033898.1:g.48734_48735insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342494.8:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA MANE Select	ENSP00000340596.3:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACC...
ENST00000342494.7:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	ENSP00000340596.3:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACC...
ENST00000434735.6:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	ENSP00000391529.2:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACC...
ENST00000449510.6:c.*223+32_*223+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	ENSP00000395802.2:n.*223+32_*223+33insATGTGTGGTACAAAAAAACAACC...
ENST00000538070.1:n.1769+32_1769+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA
ENST00000539584.5:n.1777+32_1777+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA
ENST00000539599.5:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	ENSP00000443131.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACC...
NM_130466.3:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	NP_569733.2:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACAC...
NM_183415.2:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	NP_904324.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACAC...
XM_005253987.1:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_005254044.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_006719681.2:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_006719744.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_006719682.1:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_006719745.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_011538959.1:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_011537261.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_011538960.1:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_011537262.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_011538961.1:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_011537263.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_011538962.1:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_011537264.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XR_429118.2:n.3080+32_3080+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA
XM_005253987.2:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_005254044.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_006719681.3:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_006719744.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_006719682.2:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_006719745.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_011538959.2:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_011537261.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_017020195.1:c.1674+32_1674+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_016875684.1:n.1674+32_1674+33insATGTGTGGTACAAAAAAACAACCAAA...
XM_024449269.1:c.1674+32_1674+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	XP_024305037.1:n.1674+32_1674+33insATGTGTGGTACAAAAAAACAACCAAA...
XR_429118.3:n.3080+32_3080+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA
XR_429119.4:n.3269+32_3269+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA
NM_130466.4:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA MANE Select	NP_569733.2:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACAC...
NM_183415.3:c.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACACACCCAACA	NP_904324.1:n.2253+32_2253+33insATGTGTGGTACAAAAAAACAACCAAACAC...