Canonical Allele Identifier: CA2062452773

Gene: UBE3B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109521507_109521510delinsCTCT , CM000674.2:g.109521507_109521510delinsCTCT	GRCh38
NC_000012.11:g.109959312_109959315delinsCTCT , CM000674.1:g.109959312_109959315delinsCTCT	GRCh37
NC_000012.10:g.108443695_108443698delinsCTCT	NCBI36
NG_033898.1:g.48885_48888delinsCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342494.8:c.2320_2323delinsCTCT MANE Select	ENSP00000340596.3:p.Leu774=
ENST00000342494.7:c.2320_2323delinsCTCT	ENSP00000340596.3:p.Leu774=
ENST00000434735.6:c.2320_2323delinsCTCT	ENSP00000391529.2:p.Leu774=
ENST00000449510.6:c.*290_*293delinsCTCT	ENSP00000395802.2:n.*290_*293delinsCTCT
ENST00000538070.1:n.1836_1839delinsCTCT
ENST00000539584.5:n.1844_1847delinsCTCT
ENST00000539599.5:c.2320_2323delinsCTCT	ENSP00000443131.1:p.Leu774=
NM_130466.3:c.2320_2323delinsCTCT	NP_569733.2:p.Leu774=
NM_183415.2:c.2320_2323delinsCTCT	NP_904324.1:p.Leu774=
XM_005253987.1:c.2320_2323delinsCTCT	XP_005254044.1:p.Leu774=
XM_006719681.2:c.2320_2323delinsCTCT	XP_006719744.1:p.Leu774=
XM_006719682.1:c.2320_2323delinsCTCT	XP_006719745.1:p.Leu774=
XM_011538959.1:c.2320_2323delinsCTCT	XP_011537261.1:p.Leu774=
XM_011538960.1:c.2320_2323delinsCTCT	XP_011537262.1:p.Leu774=
XM_011538961.1:c.2320_2323delinsCTCT	XP_011537263.1:p.Leu774=
XM_011538962.1:c.2320_2323delinsCTCT	XP_011537264.1:p.Leu774=
XR_429118.2:n.3147_3150delinsCTCT
XM_005253987.2:c.2320_2323delinsCTCT	XP_005254044.1:p.Leu774=
XM_006719681.3:c.2320_2323delinsCTCT	XP_006719744.1:p.Leu774=
XM_006719682.2:c.2320_2323delinsCTCT	XP_006719745.1:p.Leu774=
XM_011538959.2:c.2320_2323delinsCTCT	XP_011537261.1:p.Leu774=
XM_017020195.1:c.1741_1744delinsCTCT	XP_016875684.1:p.Leu581=
XM_024449269.1:c.1741_1744delinsCTCT	XP_024305037.1:p.Leu581=
XR_429118.3:n.3147_3150delinsCTCT
XR_429119.4:n.3336_3339delinsCTCT
NM_130466.4:c.2320_2323delinsCTCT MANE Select	NP_569733.2:p.Leu774=
NM_183415.3:c.2320_2323delinsCTCT	NP_904324.1:p.Leu774=