Canonical Allele Identifier: CA2693227795

Gene: RS1 CDKL5

Linked Data

• gnomAD v4: X-18641935-TGTGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641937_18641942del , CM000685.2:g.18641937_18641942del	GRCh38
NC_000023.10:g.18660057_18660062del , CM000685.1:g.18660057_18660062del	GRCh37
NC_000023.9:g.18569978_18569983del	NCBI36
NG_008475.1:g.221333_221338del
NG_008659.3:g.40508_40513del , LRG_702:g.40508_40513del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.*63_*68del (RS1) MANE Select	ENSP00000369320.3:n.*63_*68del
ENST00000379984.3:c.*63_*68del (RS1)	ENSP00000369320.3:n.*63_*68del
ENST00000379989.6:c.2714-4070_2714-4065del (CDKL5)	ENSP00000369325.3:n.2714-4070_2714-4065de...
ENST00000379996.7:c.2714-4070_2714-4065del (CDKL5)	ENSP00000369332.3:n.2714-4070_2714-4065de...
ENST00000476595.1:n.1229_1234del (RS1)
NM_000330.3:c.*63_*68del , LRG_702t1:c.*63_*68del (RS1)	NP_000321.1:n.*63_*68del
NM_001037343.1:c.2714-4070_2714-4065del (CDKL5)	NP_001032420.1:n.2714-4070_2714-4065del
NM_003159.2:c.2714-4070_2714-4065del (CDKL5)	NP_003150.1:n.2714-4070_2714-4065del
XM_011545569.1:c.2786-4070_2786-4065del (CDKL5)	XP_011543871.1:n.2786-4070_2786-4065del
XM_011545570.1:c.2705-4070_2705-4065del (CDKL5)	XP_011543872.1:n.2705-4070_2705-4065del
XR_950484.1:n.3089-4070_3089-4065del (CDKL5)
NM_000330.4:c.*63_*68del (RS1) MANE Select	NP_000321.1:n.*63_*68del
NM_001037343.2:c.2714-4070_2714-4065del (CDKL5)	NP_001032420.1:n.2714-4070_2714-4065del
NM_003159.3:c.2714-4070_2714-4065del (CDKL5)	NP_003150.1:n.2714-4070_2714-4065del