Canonical Allele Identifier: CA2819901354

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641938_18641939insTATCATTAAA , CM000685.2:g.18641938_18641939insTATCATTAAA	GRCh38
NC_000023.10:g.18660058_18660059insTATCATTAAA , CM000685.1:g.18660058_18660059insTATCATTAAA	GRCh37
NC_000023.9:g.18569979_18569980insTATCATTAAA	NCBI36
NG_008475.1:g.221334_221335insTATCATTAAA
NG_008659.3:g.40510_40511insTTTAATGATA , LRG_702:g.40510_40511insTTTAATGATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.*65_*66insTTTAATGATA (RS1) MANE Select	ENSP00000369320.3:n.*65_*66insTTTAATGATA
ENST00000379984.3:c.*65_*66insTTTAATGATA (RS1)	ENSP00000369320.3:n.*65_*66insTTTAATGATA
ENST00000379989.6:c.2714-4069_2714-4068insTATCATTAAA (CDKL5)	ENSP00000369325.3:n.2714-4069_2714-4068insTATCATTAAA
ENST00000379996.7:c.2714-4069_2714-4068insTATCATTAAA (CDKL5)	ENSP00000369332.3:n.2714-4069_2714-4068insTATCATTAAA
ENST00000476595.1:n.1231_1232insTTTAATGATA (RS1)
NM_000330.3:c.*65_*66insTTTAATGATA , LRG_702t1:c.*65_*66insTTTAATGATA (RS1)	NP_000321.1:n.*65_*66insTTTAATGATA
NM_001037343.1:c.2714-4069_2714-4068insTATCATTAAA (CDKL5)	NP_001032420.1:n.2714-4069_2714-4068insTATCATTAAA
NM_003159.2:c.2714-4069_2714-4068insTATCATTAAA (CDKL5)	NP_003150.1:n.2714-4069_2714-4068insTATCATTAAA
XM_011545569.1:c.2786-4069_2786-4068insTATCATTAAA (CDKL5)	XP_011543871.1:n.2786-4069_2786-4068insTATCATTAAA
XM_011545570.1:c.2705-4069_2705-4068insTATCATTAAA (CDKL5)	XP_011543872.1:n.2705-4069_2705-4068insTATCATTAAA
XR_950484.1:n.3089-4069_3089-4068insTATCATTAAA (CDKL5)
NM_000330.4:c.*65_*66insTTTAATGATA (RS1) MANE Select	NP_000321.1:n.*65_*66insTTTAATGATA
NM_001037343.2:c.2714-4069_2714-4068insTATCATTAAA (CDKL5)	NP_001032420.1:n.2714-4069_2714-4068insTATCATTAAA
NM_003159.3:c.2714-4069_2714-4068insTATCATTAAA (CDKL5)	NP_003150.1:n.2714-4069_2714-4068insTATCATTAAA