Canonical Allele Identifier: CA2693228192

Gene: RS1 CDKL5

Linked Data

• gnomAD v4: X-18647144-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18647152_18647153del , CM000685.2:g.18647152_18647153del	GRCh38
NC_000023.10:g.18665272_18665273del , CM000685.1:g.18665272_18665273del	GRCh37
NC_000023.9:g.18575193_18575194del	NCBI36
NG_008475.1:g.226548_226549del
NG_008659.3:g.35303_35304del , LRG_702:g.35303_35304del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.326+45_326+46del (RS1) MANE Select	ENSP00000369320.3:n.326+45_326+46del
ENST00000379984.3:c.326+45_326+46del (RS1)	ENSP00000369320.3:n.326+45_326+46del
ENST00000379989.6:c.2797+1062_2797+1063del (CDKL5)	ENSP00000369325.3:n.2797+1062_2797+1063de...
ENST00000379996.7:c.2797+1062_2797+1063del (CDKL5)	ENSP00000369332.3:n.2797+1062_2797+1063de...
ENST00000476595.1:n.817+45_817+46del (RS1)
NM_000330.3:c.326+45_326+46del , LRG_702t1:c.326+45_326+46del (RS1)	NP_000321.1:n.326+45_326+46del
NM_001037343.1:c.2797+1062_2797+1063del (CDKL5)	NP_001032420.1:n.2797+1062_2797+1063del
NM_003159.2:c.2797+1062_2797+1063del (CDKL5)	NP_003150.1:n.2797+1062_2797+1063del
XM_011545569.1:c.2869+1062_2869+1063del (CDKL5)	XP_011543871.1:n.2869+1062_2869+1063del
XM_011545570.1:c.2788+1062_2788+1063del (CDKL5)	XP_011543872.1:n.2788+1062_2788+1063del
XR_950484.1:n.3172+1062_3172+1063del (CDKL5)
NM_000330.4:c.326+45_326+46del (RS1) MANE Select	NP_000321.1:n.326+45_326+46del
NM_001037343.2:c.2797+1062_2797+1063del (CDKL5)	NP_001032420.1:n.2797+1062_2797+1063del
NM_003159.3:c.2797+1062_2797+1063del (CDKL5)	NP_003150.1:n.2797+1062_2797+1063del