Canonical Allele Identifier: CA218971

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 68076
• ClinVar RCV Id: RCV000058880 ; RCV001075848 ; RCV001526768
• dbSNP Id: rs199469697
• MyVariant Identifiers: chrX:g.18660220del (hg19) ; chrX:g.18642100del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642105del , CM000685.2:g.18642105del	GRCh38
NC_000023.10:g.18660225del , CM000685.1:g.18660225del	GRCh37
NC_000023.9:g.18570146del	NCBI36
NG_008475.1:g.221501del
NG_008659.3:g.40349del , LRG_702:g.40349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.579del (RS1) MANE Select	ENSP00000369320.3:p.Ile194SerfsTer?
ENST00000379984.3:c.579del (RS1)	ENSP00000369320.3:p.Ile194SerfsTer?
ENST00000379989.6:c.2714-3902del (CDKL5)	ENSP00000369325.3:n.2714-3902del
ENST00000379996.7:c.2714-3902del (CDKL5)	ENSP00000369332.3:n.2714-3902del
ENST00000476595.1:n.1070del (RS1)
NM_000330.3:c.579del , LRG_702t1:c.579del (RS1)	NP_000321.1:p.Ile194SerfsTer?
NM_001037343.1:c.2714-3902del (CDKL5)	NP_001032420.1:n.2714-3902del
NM_003159.2:c.2714-3902del (CDKL5)	NP_003150.1:n.2714-3902del
XM_011545569.1:c.2786-3902del (CDKL5)	XP_011543871.1:n.2786-3902del
XM_011545570.1:c.2705-3902del (CDKL5)	XP_011543872.1:n.2705-3902del
XR_950484.1:n.3089-3902del (CDKL5)
NM_000330.4:c.579del (RS1) MANE Select	NP_000321.1:p.Ile194SerfsTer?
NM_001037343.2:c.2714-3902del (CDKL5)	NP_001032420.1:n.2714-3902del
NM_003159.3:c.2714-3902del (CDKL5)	NP_003150.1:n.2714-3902del