Canonical Allele Identifier: CA658799587

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642135_18642136delinsCT , CM000685.2:g.18642135_18642136delinsCT	GRCh38
NC_000023.10:g.18660255_18660256delinsCT , CM000685.1:g.18660255_18660256delinsCT	GRCh37
NC_000023.9:g.18570176_18570177delinsCT	NCBI36
NG_008475.1:g.221531_221532delinsCT
NG_008659.3:g.40313_40314delinsAG , LRG_702:g.40313_40314delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.543_544delinsAG (RS1) MANE Select	ENSP00000369320.3:p.Asp181_Arg182delinsGluGly
ENST00000379984.3:c.543_544delinsAG (RS1)	ENSP00000369320.3:p.Asp181_Arg182delinsGluGly
ENST00000379989.6:c.2714-3872_2714-3871delinsCT (CDKL5)	ENSP00000369325.3:n.2714-3872_2714-3871delinsCT
ENST00000379996.7:c.2714-3872_2714-3871delinsCT (CDKL5)	ENSP00000369332.3:n.2714-3872_2714-3871delinsCT
ENST00000476595.1:n.1034_1035delinsAG (RS1)
NM_000330.3:c.543_544delinsAG , LRG_702t1:c.543_544delinsAG (RS1)	NP_000321.1:p.Asp181_Arg182delinsGluGly
NM_001037343.1:c.2714-3872_2714-3871delinsCT (CDKL5)	NP_001032420.1:n.2714-3872_2714-3871delinsCT
NM_003159.2:c.2714-3872_2714-3871delinsCT (CDKL5)	NP_003150.1:n.2714-3872_2714-3871delinsCT
XM_011545569.1:c.2786-3872_2786-3871delinsCT (CDKL5)	XP_011543871.1:n.2786-3872_2786-3871delinsCT
XM_011545570.1:c.2705-3872_2705-3871delinsCT (CDKL5)	XP_011543872.1:n.2705-3872_2705-3871delinsCT
XR_950484.1:n.3089-3872_3089-3871delinsCT (CDKL5)
NM_000330.4:c.543_544delinsAG (RS1) MANE Select	NP_000321.1:p.Asp181_Arg182delinsGluGly
NM_001037343.2:c.2714-3872_2714-3871delinsCT (CDKL5)	NP_001032420.1:n.2714-3872_2714-3871delinsCT
NM_003159.3:c.2714-3872_2714-3871delinsCT (CDKL5)	NP_003150.1:n.2714-3872_2714-3871delinsCT