Canonical Allele Identifier: CA2739268092

Gene: RS1 CDKL5

Linked Data

• ClinVar Variation Id: 2819487
• ClinVar RCV Id: RCV003706324

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644618_18644630del , CM000685.2:g.18644618_18644630del	GRCh38
NC_000023.10:g.18662738_18662750del , CM000685.1:g.18662738_18662750del	GRCh37
NC_000023.9:g.18572659_18572671del	NCBI36
NG_008475.1:g.224014_224026del
NG_008659.3:g.37822_37834del , LRG_702:g.37822_37834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.327-2_337del (RS1)
ENST00000379984.3:c.327-2_337del (RS1)
ENST00000379989.6:c.2714-1389_2714-1377del (CDKL5)	ENSP00000369325.3:n.2714-1389_2714-1377del
ENST00000379996.7:c.2714-1389_2714-1377del (CDKL5)	ENSP00000369332.3:n.2714-1389_2714-1377del
ENST00000476595.1:n.818-2_828del (RS1)
NM_000330.3:c.327-2_337del , LRG_702t1:c.327-2_337del (RS1)
NM_001037343.1:c.2714-1389_2714-1377del (CDKL5)	NP_001032420.1:n.2714-1389_2714-1377del
NM_003159.2:c.2714-1389_2714-1377del (CDKL5)	NP_003150.1:n.2714-1389_2714-1377del
XM_011545569.1:c.2786-1389_2786-1377del (CDKL5)	XP_011543871.1:n.2786-1389_2786-1377del
XM_011545570.1:c.2705-1389_2705-1377del (CDKL5)	XP_011543872.1:n.2705-1389_2705-1377del
XR_950484.1:n.3089-1389_3089-1377del (CDKL5)
NM_000330.4:c.327-2_337del (RS1)
NM_001037343.2:c.2714-1389_2714-1377del (CDKL5)	NP_001032420.1:n.2714-1389_2714-1377del
NM_003159.3:c.2714-1389_2714-1377del (CDKL5)	NP_003150.1:n.2714-1389_2714-1377del