Canonical Allele Identifier: CA226721

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 98955
• ClinVar RCV Id: RCV000085296
• dbSNP Id: rs61752155
• gnomAD v3: X-18644535-CT-C
• gnomAD v4: X-18644535-CT-C
• MyVariant Identifiers: chrX:g.18662656del (hg19) ; chrX:g.18644536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644536del , CM000685.2:g.18644536del	GRCh38
NC_000023.10:g.18662656del , CM000685.1:g.18662656del	GRCh37
NC_000023.9:g.18572577del	NCBI36
NG_008475.1:g.223932del
NG_008659.3:g.37913del , LRG_702:g.37913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.416del (RS1) MANE Select	ENSP00000369320.3:p.Gln139ArgfsTer10
ENST00000379984.3:c.416del (RS1)	ENSP00000369320.3:p.Gln139ArgfsTer10
ENST00000379989.6:c.2714-1471del (CDKL5)	ENSP00000369325.3:n.2714-1471del
ENST00000379996.7:c.2714-1471del (CDKL5)	ENSP00000369332.3:n.2714-1471del
ENST00000476595.1:n.907del (RS1)
NM_000330.3:c.416del , LRG_702t1:c.416del (RS1)	NP_000321.1:p.Gln139ArgfsTer10
NM_001037343.1:c.2714-1471del (CDKL5)	NP_001032420.1:n.2714-1471del
NM_003159.2:c.2714-1471del (CDKL5)	NP_003150.1:n.2714-1471del
XM_011545569.1:c.2786-1471del (CDKL5)	XP_011543871.1:n.2786-1471del
XM_011545570.1:c.2705-1471del (CDKL5)	XP_011543872.1:n.2705-1471del
XR_950484.1:n.3089-1471del (CDKL5)
NM_000330.4:c.416del (RS1) MANE Select	NP_000321.1:p.Gln139ArgfsTer10
NM_001037343.2:c.2714-1471del (CDKL5)	NP_001032420.1:n.2714-1471del
NM_003159.3:c.2714-1471del (CDKL5)	NP_003150.1:n.2714-1471del