Canonical Allele Identifier: CA2573158475

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642105_18642106delinsAA , CM000685.2:g.18642105_18642106delinsAA	GRCh38
NC_000023.10:g.18660225_18660226delinsAA , CM000685.1:g.18660225_18660226delinsAA	GRCh37
NC_000023.9:g.18570146_18570147delinsAA	NCBI36
NG_008475.1:g.221501_221502delinsAA
NG_008659.3:g.40343_40344delinsTT , LRG_702:g.40343_40344delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.573_574delinsTT (RS1) MANE Select	ENSP00000369320.3:p.Pro192Ser
ENST00000379984.3:c.573_574delinsTT (RS1)	ENSP00000369320.3:p.Pro192Ser
ENST00000379989.6:c.2714-3902_2714-3901delinsAA (CDKL5)	ENSP00000369325.3:n.2714-3902_2714-3901delinsAA
ENST00000379996.7:c.2714-3902_2714-3901delinsAA (CDKL5)	ENSP00000369332.3:n.2714-3902_2714-3901delinsAA
ENST00000476595.1:n.1064_1065delinsTT (RS1)
NM_000330.3:c.573_574delinsTT , LRG_702t1:c.573_574delinsTT (RS1)	NP_000321.1:p.Pro192Ser
NM_001037343.1:c.2714-3902_2714-3901delinsAA (CDKL5)	NP_001032420.1:n.2714-3902_2714-3901delinsAA
NM_003159.2:c.2714-3902_2714-3901delinsAA (CDKL5)	NP_003150.1:n.2714-3902_2714-3901delinsAA
XM_011545569.1:c.2786-3902_2786-3901delinsAA (CDKL5)	XP_011543871.1:n.2786-3902_2786-3901delinsAA
XM_011545570.1:c.2705-3902_2705-3901delinsAA (CDKL5)	XP_011543872.1:n.2705-3902_2705-3901delinsAA
XR_950484.1:n.3089-3902_3089-3901delinsAA (CDKL5)
NM_000330.4:c.573_574delinsTT (RS1) MANE Select	NP_000321.1:p.Pro192Ser
NM_001037343.2:c.2714-3902_2714-3901delinsAA (CDKL5)	NP_001032420.1:n.2714-3902_2714-3901delinsAA
NM_003159.3:c.2714-3902_2714-3901delinsAA (CDKL5)	NP_003150.1:n.2714-3902_2714-3901delinsAA