Canonical Allele Identifier: CA2675303978

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371626-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371629del , CM000667.2:g.134371629del	GRCh38
NC_000005.9:g.133707320del , CM000667.1:g.133707320del	GRCh37
NC_000005.8:g.133735219del	NCBI36
NG_042179.2:g.4421del
NG_046936.1:g.5454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.34del (UBE2B)	ENSP00000425137.2:p.Asp12IlefsTer?
ENST00000265339.7:c.34del (UBE2B) MANE Select	ENSP00000265339.2:p.Asp12IlefsTer?
ENST00000265339.6:c.34del (UBE2B)	ENSP00000265339.2:p.Asp12IlefsTer?
ENST00000504431.1:n.24del (UBE2B)
ENST00000506787.5:c.31del (UBE2B)	ENSP00000426364.1:p.Asp11IlefsTer?
ENST00000507277.1:c.26del (UBE2B)
ENST00000510021.5:c.34del (UBE2B)	ENSP00000425237.1:p.Asp12IlefsTer?
ENST00000511807.1:n.128del (UBE2B)
NM_003337.3:c.34del (UBE2B)	NP_003328.1:p.Asp12IlefsTer?
XM_024446093.1:c.-3del (CDKL3)	XP_024301861.1:n.-3del
NM_003337.4:c.34del (UBE2B) MANE Select	NP_003328.1:p.Asp12IlefsTer?