Canonical Allele Identifier: CA2693227788

Gene: RS1 CDKL5

Linked Data

• gnomAD v4: X-18641933-T-TCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641933_18641934insCTCC , CM000685.2:g.18641933_18641934insCTCC	GRCh38
NC_000023.10:g.18660053_18660054insCTCC , CM000685.1:g.18660053_18660054insCTCC	GRCh37
NC_000023.9:g.18569974_18569975insCTCC	NCBI36
NG_008475.1:g.221329_221330insCTCC
NG_008659.3:g.40515_40516insGGAG , LRG_702:g.40515_40516insGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.*70_*71insGGAG (RS1) MANE Select	ENSP00000369320.3:n.*70_*71insGGAG
ENST00000379984.3:c.*70_*71insGGAG (RS1)	ENSP00000369320.3:n.*70_*71insGGAG
ENST00000379989.6:c.2714-4074_2714-4073insCTCC (CDKL5)	ENSP00000369325.3:n.2714-4074_2714-4073in...
ENST00000379996.7:c.2714-4074_2714-4073insCTCC (CDKL5)	ENSP00000369332.3:n.2714-4074_2714-4073in...
ENST00000476595.1:n.1236_1237insGGAG (RS1)
NM_000330.3:c.*70_*71insGGAG , LRG_702t1:c.*70_*71insGGAG (RS1)	NP_000321.1:n.*70_*71insGGAG
NM_001037343.1:c.2714-4074_2714-4073insCTCC (CDKL5)	NP_001032420.1:n.2714-4074_2714-4073insCT...
NM_003159.2:c.2714-4074_2714-4073insCTCC (CDKL5)	NP_003150.1:n.2714-4074_2714-4073insCTCC
XM_011545569.1:c.2786-4074_2786-4073insCTCC (CDKL5)	XP_011543871.1:n.2786-4074_2786-4073insCT...
XM_011545570.1:c.2705-4074_2705-4073insCTCC (CDKL5)	XP_011543872.1:n.2705-4074_2705-4073insCT...
XR_950484.1:n.3089-4074_3089-4073insCTCC (CDKL5)
NM_000330.4:c.*70_*71insGGAG (RS1) MANE Select	NP_000321.1:n.*70_*71insGGAG
NM_001037343.2:c.2714-4074_2714-4073insCTCC (CDKL5)	NP_001032420.1:n.2714-4074_2714-4073insCT...
NM_003159.3:c.2714-4074_2714-4073insCTCC (CDKL5)	NP_003150.1:n.2714-4074_2714-4073insCTCC