Canonical Allele Identifier: CA2695231556

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642085_18642086insGGCGGATGA , CM000685.2:g.18642085_18642086insGGCGGATGA	GRCh38
NC_000023.10:g.18660205_18660206insGGCGGATGA , CM000685.1:g.18660205_18660206insGGCGGATGA	GRCh37
NC_000023.9:g.18570126_18570127insGGCGGATGA	NCBI36
NG_008475.1:g.221481_221482insGGCGGATGA
NG_008659.3:g.40363_40364insTCATCCGCC , LRG_702:g.40363_40364insTCATCCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.593_594insTCATCCGCC (RS1) MANE Select	ENSP00000369320.3:p.Phe198_Ile199insHisProPro
ENST00000379984.3:c.593_594insTCATCCGCC (RS1)	ENSP00000369320.3:p.Phe198_Ile199insHisProPro
ENST00000379989.6:c.2714-3922_2714-3921insGGCGGATGA (CDKL5)	ENSP00000369325.3:n.2714-3922_2714-3921insGGCGGATGA
ENST00000379996.7:c.2714-3922_2714-3921insGGCGGATGA (CDKL5)	ENSP00000369332.3:n.2714-3922_2714-3921insGGCGGATGA
ENST00000476595.1:n.1084_1085insTCATCCGCC (RS1)
NM_000330.3:c.593_594insTCATCCGCC , LRG_702t1:c.593_594insTCATCCGCC (RS1)	NP_000321.1:p.Phe198_Ile199insHisProPro
NM_001037343.1:c.2714-3922_2714-3921insGGCGGATGA (CDKL5)	NP_001032420.1:n.2714-3922_2714-3921insGGCGGATGA
NM_003159.2:c.2714-3922_2714-3921insGGCGGATGA (CDKL5)	NP_003150.1:n.2714-3922_2714-3921insGGCGGATGA
XM_011545569.1:c.2786-3922_2786-3921insGGCGGATGA (CDKL5)	XP_011543871.1:n.2786-3922_2786-3921insGGCGGATGA
XM_011545570.1:c.2705-3922_2705-3921insGGCGGATGA (CDKL5)	XP_011543872.1:n.2705-3922_2705-3921insGGCGGATGA
XR_950484.1:n.3089-3922_3089-3921insGGCGGATGA (CDKL5)
NM_000330.4:c.593_594insTCATCCGCC (RS1) MANE Select	NP_000321.1:p.Phe198_Ile199insHisProPro
NM_001037343.2:c.2714-3922_2714-3921insGGCGGATGA (CDKL5)	NP_001032420.1:n.2714-3922_2714-3921insGGCGGATGA
NM_003159.3:c.2714-3922_2714-3921insGGCGGATGA (CDKL5)	NP_003150.1:n.2714-3922_2714-3921insGGCGGATGA