Canonical Allele Identifier: CA2580100386

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 2123578
• ClinVar RCV Id: RCV003035485

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642022_18642023delinsCT , CM000685.2:g.18642022_18642023delinsCT	GRCh38
NC_000023.10:g.18660142_18660143delinsCT , CM000685.1:g.18660142_18660143delinsCT	GRCh37
NC_000023.9:g.18570063_18570064delinsCT	NCBI36
NG_008475.1:g.221418_221419delinsCT
NG_008659.3:g.40426_40427delinsAG , LRG_702:g.40426_40427delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.656_657delinsAG (RS1) MANE Select	ENSP00000369320.3:p.Cys219Ter
ENST00000379984.3:c.656_657delinsAG (RS1)	ENSP00000369320.3:p.Cys219Ter
ENST00000379989.6:c.2714-3985_2714-3984delinsCT (CDKL5)	ENSP00000369325.3:n.2714-3985_2714-3984de...
ENST00000379996.7:c.2714-3985_2714-3984delinsCT (CDKL5)	ENSP00000369332.3:n.2714-3985_2714-3984de...
ENST00000476595.1:n.1147_1148delinsAG (RS1)
NM_000330.3:c.656_657delinsAG , LRG_702t1:c.656_657delinsAG (RS1)	NP_000321.1:p.Cys219Ter
NM_001037343.1:c.2714-3985_2714-3984delinsCT (CDKL5)	NP_001032420.1:n.2714-3985_2714-3984delin...
NM_003159.2:c.2714-3985_2714-3984delinsCT (CDKL5)	NP_003150.1:n.2714-3985_2714-3984delinsCT...
XM_011545569.1:c.2786-3985_2786-3984delinsCT (CDKL5)	XP_011543871.1:n.2786-3985_2786-3984delin...
XM_011545570.1:c.2705-3985_2705-3984delinsCT (CDKL5)	XP_011543872.1:n.2705-3985_2705-3984delin...
XR_950484.1:n.3089-3985_3089-3984delinsCT (CDKL5)
NM_000330.4:c.656_657delinsAG (RS1) MANE Select	NP_000321.1:p.Cys219Ter
NM_001037343.2:c.2714-3985_2714-3984delinsCT (CDKL5)	NP_001032420.1:n.2714-3985_2714-3984delin...
NM_003159.3:c.2714-3985_2714-3984delinsCT (CDKL5)	NP_003150.1:n.2714-3985_2714-3984delinsCT...