Canonical Allele Identifier: CA1584037151

Gene: UBE2B CDKL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371715_134371717delinsTCC , CM000667.2:g.134371715_134371717delinsTCC	GRCh38
NC_000005.9:g.133707406_133707408delinsTCC , CM000667.1:g.133707406_133707408delinsTCC	GRCh37
NC_000005.8:g.133735305_133735307delinsTCC	NCBI36
NG_042179.2:g.4331_4333delinsGGA
NG_046936.1:g.5540_5542delinsTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+76_44+78delinsTCC (UBE2B)	ENSP00000425137.2:n.44+76_44+78delinsTCC
ENST00000265339.7:c.44+76_44+78delinsTCC (UBE2B) MANE Select	ENSP00000265339.2:n.44+76_44+78delinsTCC
ENST00000265339.6:c.44+76_44+78delinsTCC (UBE2B)	ENSP00000265339.2:n.44+76_44+78delinsTCC
ENST00000504431.1:n.34+76_34+78delinsTCC (UBE2B)
ENST00000506787.5:c.41+76_41+78delinsTCC (UBE2B)	ENSP00000426364.1:n.41+76_41+78delinsTCC
ENST00000507277.1:c.36+76_36+78delinsTCC (UBE2B)
ENST00000510021.5:c.44+76_44+78delinsTCC (UBE2B)	ENSP00000425237.1:n.44+76_44+78delinsTCC
ENST00000511807.1:n.138+76_138+78delinsTCC (UBE2B)
NM_003337.3:c.44+76_44+78delinsTCC (UBE2B)	NP_003328.1:n.44+76_44+78delinsTCC
XM_024446093.1:c.-93_-91delinsGGA (CDKL3)	XP_024301861.1:n.-93_-91delinsGGA
NM_003337.4:c.44+76_44+78delinsTCC (UBE2B) MANE Select	NP_003328.1:n.44+76_44+78delinsTCC