Canonical Allele Identifier: CA2417982252

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628694_18628695delinsCT , CM000685.2:g.18628694_18628695delinsCT	GRCh38
NC_000023.10:g.18646814_18646815delinsCT , CM000685.1:g.18646814_18646815delinsCT	GRCh37
NC_000023.9:g.18556735_18556736delinsCT	NCBI36
NG_008475.1:g.208090_208091delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2820_2821delinsCT MANE Select	ENSP00000485244.1:p.Pro940=
ENST00000674046.1:c.2943_2944delinsCT	ENSP00000501174.1:p.Pro981=
ENST00000379989.6:c.2713+107_2713+108delinsCT	ENSP00000369325.3:n.2713+107_2713+108delinsCT
ENST00000379996.7:c.2713+107_2713+108delinsCT	ENSP00000369332.3:n.2713+107_2713+108delinsCT
ENST00000623535.1:c.2820_2821delinsCT	ENSP00000485244.1:p.Pro940=
NM_001037343.1:c.2713+107_2713+108delinsCT	NP_001032420.1:n.2713+107_2713+108delinsCT
NM_003159.2:c.2713+107_2713+108delinsCT	NP_003150.1:n.2713+107_2713+108delinsCT
XM_011545569.1:c.2785+107_2785+108delinsCT	XP_011543871.1:n.2785+107_2785+108delinsCT
XM_011545570.1:c.2704+107_2704+108delinsCT	XP_011543872.1:n.2704+107_2704+108delinsCT
XR_950484.1:n.3088+107_3088+108delinsCT
NM_001323289.1:c.2820_2821delinsCT	NP_001310218.1:p.Pro940=
NM_001323289.2:c.2820_2821delinsCT MANE Select	NP_001310218.1:p.Pro940=
NM_001037343.2:c.2713+107_2713+108delinsCT	NP_001032420.1:n.2713+107_2713+108delinsCT
NM_003159.3:c.2713+107_2713+108delinsCT	NP_003150.1:n.2713+107_2713+108delinsCT