Canonical Allele Identifier: CA2727260246

Gene: UBE3B

Linked Data

• dbSNP Id: rs2136066379

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109521473_109521474del , CM000674.2:g.109521473_109521474del	GRCh38
NC_000012.11:g.109959278_109959279del , CM000674.1:g.109959278_109959279del	GRCh37
NC_000012.10:g.108443661_108443662del	NCBI36
NG_033898.1:g.48851_48852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342494.8:c.2286_2287del MANE Select	ENSP00000340596.3:p.Pro763HisfsTer6
ENST00000342494.7:c.2286_2287del	ENSP00000340596.3:p.Pro763HisfsTer6
ENST00000434735.6:c.2286_2287del	ENSP00000391529.2:p.Pro763HisfsTer6
ENST00000449510.6:c.*256_*257del	ENSP00000395802.2:n.*256_*257del
ENST00000538070.1:n.1802_1803del
ENST00000539584.5:n.1810_1811del
ENST00000539599.5:c.2286_2287del	ENSP00000443131.1:p.Pro763HisfsTer6
NM_130466.3:c.2286_2287del	NP_569733.2:p.Pro763HisfsTer6
NM_183415.2:c.2286_2287del	NP_904324.1:p.Pro763HisfsTer6
XM_005253987.1:c.2286_2287del	XP_005254044.1:p.Pro763HisfsTer6
XM_006719681.2:c.2286_2287del	XP_006719744.1:p.Pro763HisfsTer6
XM_006719682.1:c.2286_2287del	XP_006719745.1:p.Pro763HisfsTer6
XM_011538959.1:c.2286_2287del	XP_011537261.1:p.Pro763HisfsTer6
XM_011538960.1:c.2286_2287del	XP_011537262.1:p.Pro763HisfsTer6
XM_011538961.1:c.2286_2287del	XP_011537263.1:p.Pro763HisfsTer6
XM_011538962.1:c.2286_2287del	XP_011537264.1:p.Pro763HisfsTer6
XR_429118.2:n.3113_3114del
XM_005253987.2:c.2286_2287del	XP_005254044.1:p.Pro763HisfsTer6
XM_006719681.3:c.2286_2287del	XP_006719744.1:p.Pro763HisfsTer6
XM_006719682.2:c.2286_2287del	XP_006719745.1:p.Pro763HisfsTer6
XM_011538959.2:c.2286_2287del	XP_011537261.1:p.Pro763HisfsTer6
XM_017020195.1:c.1707_1708del	XP_016875684.1:p.Pro570HisfsTer6
XM_024449269.1:c.1707_1708del	XP_024305037.1:p.Pro570HisfsTer6
XR_429118.3:n.3113_3114del
XR_429119.4:n.3302_3303del
NM_130466.4:c.2286_2287del MANE Select	NP_569733.2:p.Pro763HisfsTer6
NM_183415.3:c.2286_2287del	NP_904324.1:p.Pro763HisfsTer6