Canonical Allele Identifier: CA2693227790

Gene: RS1 CDKL5

Linked Data

• gnomAD v4: X-18641933-T-TGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641934_18641935insGCCG , CM000685.2:g.18641934_18641935insGCCG	GRCh38
NC_000023.10:g.18660054_18660055insGCCG , CM000685.1:g.18660054_18660055insGCCG	GRCh37
NC_000023.9:g.18569975_18569976insGCCG	NCBI36
NG_008475.1:g.221330_221331insGCCG
NG_008659.3:g.40515_40516insGGCC , LRG_702:g.40515_40516insGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.*70_*71insGGCC (RS1) MANE Select	ENSP00000369320.3:n.*70_*71insGGCC
ENST00000379984.3:c.*70_*71insGGCC (RS1)	ENSP00000369320.3:n.*70_*71insGGCC
ENST00000379989.6:c.2714-4073_2714-4072insGCCG (CDKL5)	ENSP00000369325.3:n.2714-4073_2714-4072in...
ENST00000379996.7:c.2714-4073_2714-4072insGCCG (CDKL5)	ENSP00000369332.3:n.2714-4073_2714-4072in...
ENST00000476595.1:n.1236_1237insGGCC (RS1)
NM_000330.3:c.*70_*71insGGCC , LRG_702t1:c.*70_*71insGGCC (RS1)	NP_000321.1:n.*70_*71insGGCC
NM_001037343.1:c.2714-4073_2714-4072insGCCG (CDKL5)	NP_001032420.1:n.2714-4073_2714-4072insGC...
NM_003159.2:c.2714-4073_2714-4072insGCCG (CDKL5)	NP_003150.1:n.2714-4073_2714-4072insGCCG
XM_011545569.1:c.2786-4073_2786-4072insGCCG (CDKL5)	XP_011543871.1:n.2786-4073_2786-4072insGC...
XM_011545570.1:c.2705-4073_2705-4072insGCCG (CDKL5)	XP_011543872.1:n.2705-4073_2705-4072insGC...
XR_950484.1:n.3089-4073_3089-4072insGCCG (CDKL5)
NM_000330.4:c.*70_*71insGGCC (RS1) MANE Select	NP_000321.1:n.*70_*71insGGCC
NM_001037343.2:c.2714-4073_2714-4072insGCCG (CDKL5)	NP_001032420.1:n.2714-4073_2714-4072insGC...
NM_003159.3:c.2714-4073_2714-4072insGCCG (CDKL5)	NP_003150.1:n.2714-4073_2714-4072insGCCG