Canonical Allele Identifier: CA2620806507

Gene: UBE3B

Linked Data

• gnomAD v4: 12-109521559-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109521559_109521560insA , CM000674.2:g.109521559_109521560insA	GRCh38
NC_000012.11:g.109959364_109959365insA , CM000674.1:g.109959364_109959365insA	GRCh37
NC_000012.10:g.108443747_108443748insA	NCBI36
NG_033898.1:g.48937_48938insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342494.8:c.2364+8_2364+9insA MANE Select	ENSP00000340596.3:n.2364+8_2364+9insA
ENST00000342494.7:c.2364+8_2364+9insA	ENSP00000340596.3:n.2364+8_2364+9insA
ENST00000434735.6:c.2364+8_2364+9insA	ENSP00000391529.2:n.2364+8_2364+9insA
ENST00000449510.6:c.*334+8_*334+9insA	ENSP00000395802.2:n.*334+8_*334+9insA
ENST00000538070.1:n.1880+8_1880+9insA
ENST00000539584.5:n.1888+8_1888+9insA
ENST00000539599.5:c.2364+8_2364+9insA	ENSP00000443131.1:n.2364+8_2364+9insA
NM_130466.3:c.2364+8_2364+9insA	NP_569733.2:n.2364+8_2364+9insA
NM_183415.2:c.2364+8_2364+9insA	NP_904324.1:n.2364+8_2364+9insA
XM_005253987.1:c.2364+8_2364+9insA	XP_005254044.1:n.2364+8_2364+9insA
XM_006719681.2:c.2364+8_2364+9insA	XP_006719744.1:n.2364+8_2364+9insA
XM_006719682.1:c.2364+8_2364+9insA	XP_006719745.1:n.2364+8_2364+9insA
XM_011538959.1:c.2364+8_2364+9insA	XP_011537261.1:n.2364+8_2364+9insA
XM_011538960.1:c.2364+8_2364+9insA	XP_011537262.1:n.2364+8_2364+9insA
XM_011538961.1:c.2364+8_2364+9insA	XP_011537263.1:n.2364+8_2364+9insA
XM_011538962.1:c.2364+8_2364+9insA	XP_011537264.1:n.2364+8_2364+9insA
XR_429118.2:n.3191+8_3191+9insA
XM_005253987.2:c.2364+8_2364+9insA	XP_005254044.1:n.2364+8_2364+9insA
XM_006719681.3:c.2364+8_2364+9insA	XP_006719744.1:n.2364+8_2364+9insA
XM_006719682.2:c.2364+8_2364+9insA	XP_006719745.1:n.2364+8_2364+9insA
XM_011538959.2:c.2364+8_2364+9insA	XP_011537261.1:n.2364+8_2364+9insA
XM_017020195.1:c.1785+8_1785+9insA	XP_016875684.1:n.1785+8_1785+9insA
XM_024449269.1:c.1785+8_1785+9insA	XP_024305037.1:n.1785+8_1785+9insA
XR_429118.3:n.3191+8_3191+9insA
XR_429119.4:n.3380+8_3380+9insA
NM_130466.4:c.2364+8_2364+9insA MANE Select	NP_569733.2:n.2364+8_2364+9insA
NM_183415.3:c.2364+8_2364+9insA	NP_904324.1:n.2364+8_2364+9insA