Canonical Allele Identifier: CA916082486

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 866069
• ClinVar RCV Id: RCV001073801
• dbSNP Id: rs1927703176

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644573_18644577del , CM000685.2:g.18644573_18644577del	GRCh38
NC_000023.10:g.18662693_18662697del , CM000685.1:g.18662693_18662697del	GRCh37
NC_000023.9:g.18572614_18572618del	NCBI36
NG_008475.1:g.223969_223973del
NG_008659.3:g.37872_37876del , LRG_702:g.37872_37876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.375_379del (RS1) MANE Select	ENSP00000369320.3:p.Asp126GlufsTer16
ENST00000379984.3:c.375_379del (RS1)	ENSP00000369320.3:p.Asp126GlufsTer16
ENST00000379989.6:c.2714-1434_2714-1430del (CDKL5)	ENSP00000369325.3:n.2714-1434_2714-1430del
ENST00000379996.7:c.2714-1434_2714-1430del (CDKL5)	ENSP00000369332.3:n.2714-1434_2714-1430del
ENST00000476595.1:n.866_870del (RS1)
NM_000330.3:c.375_379del , LRG_702t1:c.375_379del (RS1)	NP_000321.1:p.Asp126GlufsTer16
NM_001037343.1:c.2714-1434_2714-1430del (CDKL5)	NP_001032420.1:n.2714-1434_2714-1430del
NM_003159.2:c.2714-1434_2714-1430del (CDKL5)	NP_003150.1:n.2714-1434_2714-1430del
XM_011545569.1:c.2786-1434_2786-1430del (CDKL5)	XP_011543871.1:n.2786-1434_2786-1430del
XM_011545570.1:c.2705-1434_2705-1430del (CDKL5)	XP_011543872.1:n.2705-1434_2705-1430del
XR_950484.1:n.3089-1434_3089-1430del (CDKL5)
NM_000330.4:c.375_379del (RS1) MANE Select	NP_000321.1:p.Asp126GlufsTer16
NM_001037343.2:c.2714-1434_2714-1430del (CDKL5)	NP_001032420.1:n.2714-1434_2714-1430del
NM_003159.3:c.2714-1434_2714-1430del (CDKL5)	NP_003150.1:n.2714-1434_2714-1430del