Canonical Allele Identifier: CA2695231598

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18647192_18647333del , CM000685.2:g.18647192_18647333del	GRCh38
NC_000023.10:g.18665312_18665453del , CM000685.1:g.18665312_18665453del	GRCh37
NC_000023.9:g.18575233_18575374del	NCBI36
NG_008475.1:g.226588_226729del
NG_008659.3:g.35117_35258del , LRG_702:g.35117_35258del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.185_326del (RS1)
ENST00000379984.3:c.185_326del (RS1)
ENST00000379989.6:c.2797+1102_2797+1243del (CDKL5)	ENSP00000369325.3:n.2797+1102_2797+1243del
ENST00000379996.7:c.2797+1102_2797+1243del (CDKL5)	ENSP00000369332.3:n.2797+1102_2797+1243del
ENST00000476595.1:n.676_817del (RS1)
NM_000330.3:c.185_326del , LRG_702t1:c.185_326del (RS1)
NM_001037343.1:c.2797+1102_2797+1243del (CDKL5)	NP_001032420.1:n.2797+1102_2797+1243del
NM_003159.2:c.2797+1102_2797+1243del (CDKL5)	NP_003150.1:n.2797+1102_2797+1243del
XM_011545569.1:c.2869+1102_2869+1243del (CDKL5)	XP_011543871.1:n.2869+1102_2869+1243del
XM_011545570.1:c.2788+1102_2788+1243del (CDKL5)	XP_011543872.1:n.2788+1102_2788+1243del
XR_950484.1:n.3172+1102_3172+1243del (CDKL5)
NM_000330.4:c.185_326del (RS1)
NM_001037343.2:c.2797+1102_2797+1243del (CDKL5)	NP_001032420.1:n.2797+1102_2797+1243del
NM_003159.3:c.2797+1102_2797+1243del (CDKL5)	NP_003150.1:n.2797+1102_2797+1243del