Canonical Allele Identifier: CA2515909312

Gene: RS1 CDKL5

Linked Data

• gnomAD v4: X-18641857-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641869_18641870dup , CM000685.2:g.18641869_18641870dup	GRCh38
NC_000023.10:g.18659989_18659990dup , CM000685.1:g.18659989_18659990dup	GRCh37
NC_000023.9:g.18569910_18569911dup	NCBI36
NG_008475.1:g.221265_221266dup
NG_008659.3:g.40590_40591dup , LRG_702:g.40590_40591dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.*145_*146dup (RS1) MANE Select	ENSP00000369320.3:n.*145_*146dup
ENST00000379984.3:c.*145_*146dup (RS1)	ENSP00000369320.3:n.*145_*146dup
ENST00000379989.6:c.2714-4138_2714-4137dup (CDKL5)	ENSP00000369325.3:n.2714-4138_2714-4137dup
ENST00000379996.7:c.2714-4138_2714-4137dup (CDKL5)	ENSP00000369332.3:n.2714-4138_2714-4137dup
NM_000330.3:c.*145_*146dup , LRG_702t1:c.*145_*146dup (RS1)	NP_000321.1:n.*145_*146dup
NM_001037343.1:c.2714-4138_2714-4137dup (CDKL5)	NP_001032420.1:n.2714-4138_2714-4137dup
NM_003159.2:c.2714-4138_2714-4137dup (CDKL5)	NP_003150.1:n.2714-4138_2714-4137dup
XM_011545569.1:c.2786-4138_2786-4137dup (CDKL5)	XP_011543871.1:n.2786-4138_2786-4137dup
XM_011545570.1:c.2705-4138_2705-4137dup (CDKL5)	XP_011543872.1:n.2705-4138_2705-4137dup
XR_950484.1:n.3089-4138_3089-4137dup (CDKL5)
NM_000330.4:c.*145_*146dup (RS1) MANE Select	NP_000321.1:n.*145_*146dup
NM_001037343.2:c.2714-4138_2714-4137dup (CDKL5)	NP_001032420.1:n.2714-4138_2714-4137dup
NM_003159.3:c.2714-4138_2714-4137dup (CDKL5)	NP_003150.1:n.2714-4138_2714-4137dup