Canonical Allele Identifier: CA2693227791

Gene: RS1 CDKL5

Linked Data

• gnomAD v4: X-18641933-TGTGTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641935_18641940del , CM000685.2:g.18641935_18641940del	GRCh38
NC_000023.10:g.18660055_18660060del , CM000685.1:g.18660055_18660060del	GRCh37
NC_000023.9:g.18569976_18569981del	NCBI36
NG_008475.1:g.221331_221336del
NG_008659.3:g.40510_40515del , LRG_702:g.40510_40515del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.*65_*70del (RS1) MANE Select	ENSP00000369320.3:n.*65_*70del
ENST00000379984.3:c.*65_*70del (RS1)	ENSP00000369320.3:n.*65_*70del
ENST00000379989.6:c.2714-4072_2714-4067del (CDKL5)	ENSP00000369325.3:n.2714-4072_2714-4067de...
ENST00000379996.7:c.2714-4072_2714-4067del (CDKL5)	ENSP00000369332.3:n.2714-4072_2714-4067de...
ENST00000476595.1:n.1231_1236del (RS1)
NM_000330.3:c.*65_*70del , LRG_702t1:c.*65_*70del (RS1)	NP_000321.1:n.*65_*70del
NM_001037343.1:c.2714-4072_2714-4067del (CDKL5)	NP_001032420.1:n.2714-4072_2714-4067del
NM_003159.2:c.2714-4072_2714-4067del (CDKL5)	NP_003150.1:n.2714-4072_2714-4067del
XM_011545569.1:c.2786-4072_2786-4067del (CDKL5)	XP_011543871.1:n.2786-4072_2786-4067del
XM_011545570.1:c.2705-4072_2705-4067del (CDKL5)	XP_011543872.1:n.2705-4072_2705-4067del
XR_950484.1:n.3089-4072_3089-4067del (CDKL5)
NM_000330.4:c.*65_*70del (RS1) MANE Select	NP_000321.1:n.*65_*70del
NM_001037343.2:c.2714-4072_2714-4067del (CDKL5)	NP_001032420.1:n.2714-4072_2714-4067del
NM_003159.3:c.2714-4072_2714-4067del (CDKL5)	NP_003150.1:n.2714-4072_2714-4067del