Canonical Allele Identifier: CA2515781889

Gene: UBE3B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109521552_109521556del , CM000674.2:g.109521552_109521556del	GRCh38
NC_000012.11:g.109959357_109959361del , CM000674.1:g.109959357_109959361del	GRCh37
NC_000012.10:g.108443740_108443744del	NCBI36
NG_033898.1:g.48930_48934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342494.8:c.2364+1_2364+5del
ENST00000342494.7:c.2364+1_2364+5del
ENST00000434735.6:c.2364+1_2364+5del
ENST00000449510.6:c.*334+1_*334+5del
ENST00000538070.1:n.1880+1_1880+5del
ENST00000539584.5:n.1888+1_1888+5del
ENST00000539599.5:c.2364+1_2364+5del
NM_130466.3:c.2364+1_2364+5del
NM_183415.2:c.2364+1_2364+5del
XM_005253987.1:c.2364+1_2364+5del
XM_006719681.2:c.2364+1_2364+5del
XM_006719682.1:c.2364+1_2364+5del
XM_011538959.1:c.2364+1_2364+5del
XM_011538960.1:c.2364+1_2364+5del
XM_011538961.1:c.2364+1_2364+5del
XM_011538962.1:c.2364+1_2364+5del
XR_429118.2:n.3191+1_3191+5del
XM_005253987.2:c.2364+1_2364+5del
XM_006719681.3:c.2364+1_2364+5del
XM_006719682.2:c.2364+1_2364+5del
XM_011538959.2:c.2364+1_2364+5del
XM_017020195.1:c.1785+1_1785+5del
XM_024449269.1:c.1785+1_1785+5del
XR_429118.3:n.3191+1_3191+5del
XR_429119.4:n.3380+1_3380+5del
NM_130466.4:c.2364+1_2364+5del
NM_183415.3:c.2364+1_2364+5del