Canonical Allele Identifier: CA2573158463

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1453219
• ClinVar RCV Id: RCV002037859
• dbSNP Id: rs2147179071

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628567_18628568del , CM000685.2:g.18628567_18628568del	GRCh38
NC_000023.10:g.18646687_18646688del , CM000685.1:g.18646687_18646688del	GRCh37
NC_000023.9:g.18556608_18556609del	NCBI36
NG_008475.1:g.207963_207964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2693_2694del MANE Select	ENSP00000485244.1:p.Arg898ThrfsTer30
ENST00000674046.1:c.2816_2817del	ENSP00000501174.1:p.Arg939ThrfsTer30
ENST00000379989.6:c.2693_2694del	ENSP00000369325.3:p.Arg898ThrfsTer11
ENST00000379996.7:c.2693_2694del	ENSP00000369332.3:p.Arg898ThrfsTer11
ENST00000623535.1:c.2693_2694del	ENSP00000485244.1:p.Arg898ThrfsTer30
NM_001037343.1:c.2693_2694del	NP_001032420.1:p.Arg898ThrfsTer11
NM_003159.2:c.2693_2694del	NP_003150.1:p.Arg898ThrfsTer11
XM_011545569.1:c.2765_2766del	XP_011543871.1:p.Arg922ThrfsTer11
XM_011545570.1:c.2684_2685del	XP_011543872.1:p.Arg895ThrfsTer11
XR_950484.1:n.3068_3069del
NM_001323289.1:c.2693_2694del	NP_001310218.1:p.Arg898ThrfsTer30
NM_001323289.2:c.2693_2694del MANE Select	NP_001310218.1:p.Arg898ThrfsTer30
NM_001037343.2:c.2693_2694del	NP_001032420.1:p.Arg898ThrfsTer11
NM_003159.3:c.2693_2694del	NP_003150.1:p.Arg898ThrfsTer11