Canonical Allele Identifier: CA2417987309

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644572_18644577delinsAGATCT , CM000685.2:g.18644572_18644577delinsAGATCT	GRCh38
NC_000023.10:g.18662692_18662697delinsAGATCT , CM000685.1:g.18662692_18662697delinsAGATCT	GRCh37
NC_000023.9:g.18572613_18572618delinsAGATCT	NCBI36
NG_008475.1:g.223968_223973delinsAGATCT
NG_008659.3:g.37872_37877delinsAGATCT , LRG_702:g.37872_37877delinsAGATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.375_380delinsAGATCT (RS1) MANE Select	ENSP00000369320.3:p.Ile125=
ENST00000379984.3:c.375_380delinsAGATCT (RS1)	ENSP00000369320.3:p.Ile125=
ENST00000379989.6:c.2714-1435_2714-1430delinsAGATCT (CDKL5)	ENSP00000369325.3:n.2714-1435_2714-1430delinsAGATCT
ENST00000379996.7:c.2714-1435_2714-1430delinsAGATCT (CDKL5)	ENSP00000369332.3:n.2714-1435_2714-1430delinsAGATCT
ENST00000476595.1:n.866_871delinsAGATCT (RS1)
NM_000330.3:c.375_380delinsAGATCT , LRG_702t1:c.375_380delinsAGATCT (RS1)	NP_000321.1:p.Ile125=
NM_001037343.1:c.2714-1435_2714-1430delinsAGATCT (CDKL5)	NP_001032420.1:n.2714-1435_2714-1430delinsAGATCT
NM_003159.2:c.2714-1435_2714-1430delinsAGATCT (CDKL5)	NP_003150.1:n.2714-1435_2714-1430delinsAGATCT
XM_011545569.1:c.2786-1435_2786-1430delinsAGATCT (CDKL5)	XP_011543871.1:n.2786-1435_2786-1430delinsAGATCT
XM_011545570.1:c.2705-1435_2705-1430delinsAGATCT (CDKL5)	XP_011543872.1:n.2705-1435_2705-1430delinsAGATCT
XR_950484.1:n.3089-1435_3089-1430delinsAGATCT (CDKL5)
NM_000330.4:c.375_380delinsAGATCT (RS1) MANE Select	NP_000321.1:p.Ile125=
NM_001037343.2:c.2714-1435_2714-1430delinsAGATCT (CDKL5)	NP_001032420.1:n.2714-1435_2714-1430delinsAGATCT
NM_003159.3:c.2714-1435_2714-1430delinsAGATCT (CDKL5)	NP_003150.1:n.2714-1435_2714-1430delinsAGATCT