Canonical Allele Identifier: CA2564835025

Gene: RS1 CDKL5

Linked Data

• gnomAD v4: X-18641935-TGTGAGGGGGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641936_18641946del , CM000685.2:g.18641936_18641946del	GRCh38
NC_000023.10:g.18660056_18660066del , CM000685.1:g.18660056_18660066del	GRCh37
NC_000023.9:g.18569977_18569987del	NCBI36
NG_008475.1:g.221332_221342del
NG_008659.3:g.40503_40513del , LRG_702:g.40503_40513del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.*58_*68del (RS1) MANE Select	ENSP00000369320.3:n.*58_*68del
ENST00000379984.3:c.*58_*68del (RS1)	ENSP00000369320.3:n.*58_*68del
ENST00000379989.6:c.2714-4071_2714-4061del (CDKL5)	ENSP00000369325.3:n.2714-4071_2714-4061de...
ENST00000379996.7:c.2714-4071_2714-4061del (CDKL5)	ENSP00000369332.3:n.2714-4071_2714-4061de...
ENST00000476595.1:n.1224_1234del (RS1)
NM_000330.3:c.*58_*68del , LRG_702t1:c.*58_*68del (RS1)	NP_000321.1:n.*58_*68del
NM_001037343.1:c.2714-4071_2714-4061del (CDKL5)	NP_001032420.1:n.2714-4071_2714-4061del
NM_003159.2:c.2714-4071_2714-4061del (CDKL5)	NP_003150.1:n.2714-4071_2714-4061del
XM_011545569.1:c.2786-4071_2786-4061del (CDKL5)	XP_011543871.1:n.2786-4071_2786-4061del
XM_011545570.1:c.2705-4071_2705-4061del (CDKL5)	XP_011543872.1:n.2705-4071_2705-4061del
XR_950484.1:n.3089-4071_3089-4061del (CDKL5)
NM_000330.4:c.*58_*68del (RS1) MANE Select	NP_000321.1:n.*58_*68del
NM_001037343.2:c.2714-4071_2714-4061del (CDKL5)	NP_001032420.1:n.2714-4071_2714-4061del
NM_003159.3:c.2714-4071_2714-4061del (CDKL5)	NP_003150.1:n.2714-4071_2714-4061del