Canonical Allele Identifier: CA915950778

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 643438
• ClinVar RCV Id: RCV000797135 ; RCV001090795 ; RCV002281134
• dbSNP Id: rs1602300837
• ERepo: CA915950778/MONDO:0100039/016

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628695del , CM000685.2:g.18628695del	GRCh38
NC_000023.10:g.18646815del , CM000685.1:g.18646815del	GRCh37
NC_000023.9:g.18556736del	NCBI36
NG_008475.1:g.208091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2821del MANE Select	ENSP00000485244.1:p.Tyr941IlefsTer12
ENST00000674046.1:c.2944del	ENSP00000501174.1:p.Tyr982IlefsTer12
ENST00000379989.6:c.2713+108del	ENSP00000369325.3:n.2713+108del
ENST00000379996.7:c.2713+108del	ENSP00000369332.3:n.2713+108del
ENST00000623535.1:c.2821del	ENSP00000485244.1:p.Tyr941IlefsTer12
NM_001037343.1:c.2713+108del	NP_001032420.1:n.2713+108del
NM_003159.2:c.2713+108del	NP_003150.1:n.2713+108del
XM_011545569.1:c.2785+108del	XP_011543871.1:n.2785+108del
XM_011545570.1:c.2704+108del	XP_011543872.1:n.2704+108del
XR_950484.1:n.3088+108del
NM_001323289.1:c.2821del	NP_001310218.1:p.Tyr941IlefsTer12
NM_001323289.2:c.2821del MANE Select	NP_001310218.1:p.Tyr941IlefsTer12
NM_001037343.2:c.2713+108del	NP_001032420.1:n.2713+108del
NM_003159.3:c.2713+108del	NP_003150.1:n.2713+108del