Canonical Allele Identifier: CA2417982133

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628319_18628320delinsCT , CM000685.2:g.18628319_18628320delinsCT	GRCh38
NC_000023.10:g.18646439_18646440delinsCT , CM000685.1:g.18646439_18646440delinsCT	GRCh37
NC_000023.9:g.18556360_18556361delinsCT	NCBI36
NG_008475.1:g.207715_207716delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2497-52_2497-51delinsCT MANE Select	ENSP00000485244.1:n.2497-52_2497-51delinsCT
ENST00000674046.1:c.2620-52_2620-51delinsCT	ENSP00000501174.1:n.2620-52_2620-51delinsCT
ENST00000379989.6:c.2497-52_2497-51delinsCT	ENSP00000369325.3:n.2497-52_2497-51delinsCT
ENST00000379996.7:c.2497-52_2497-51delinsCT	ENSP00000369332.3:n.2497-52_2497-51delinsCT
ENST00000623535.1:c.2497-52_2497-51delinsCT	ENSP00000485244.1:n.2497-52_2497-51delinsCT
NM_001037343.1:c.2497-52_2497-51delinsCT	NP_001032420.1:n.2497-52_2497-51delinsCT
NM_003159.2:c.2497-52_2497-51delinsCT	NP_003150.1:n.2497-52_2497-51delinsCT
XM_011545569.1:c.2569-52_2569-51delinsCT	XP_011543871.1:n.2569-52_2569-51delinsCT
XM_011545570.1:c.2488-52_2488-51delinsCT	XP_011543872.1:n.2488-52_2488-51delinsCT
XR_950484.1:n.2872-52_2872-51delinsCT
NM_001323289.1:c.2497-52_2497-51delinsCT	NP_001310218.1:n.2497-52_2497-51delinsCT
NM_001323289.2:c.2497-52_2497-51delinsCT MANE Select	NP_001310218.1:n.2497-52_2497-51delinsCT
NM_001037343.2:c.2497-52_2497-51delinsCT	NP_001032420.1:n.2497-52_2497-51delinsCT
NM_003159.3:c.2497-52_2497-51delinsCT	NP_003150.1:n.2497-52_2497-51delinsCT