Canonical Allele Identifier: CA294689

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 156651
• ClinVar RCV Id: RCV000144794 ; RCV001386312
• dbSNP Id: rs587783123
• MyVariant Identifiers: chrX:g.18638070_18638073del (hg19) ; chrX:g.18619950_18619953del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619950_18619953del , CM000685.2:g.18619950_18619953del	GRCh38
NC_000023.10:g.18638070_18638073del , CM000685.1:g.18638070_18638073del	GRCh37
NC_000023.9:g.18547991_18547994del	NCBI36
NG_008475.1:g.199346_199349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2360_2363del MANE Select	ENSP00000485244.1:p.Lys787ArgfsTer15
ENST00000635828.1:c.2360_2363del	ENSP00000490170.1:p.Lys787ArgfsTer15
ENST00000674046.1:c.2360_2363del	ENSP00000501174.1:p.Lys787ArgfsTer30
ENST00000379989.6:c.2360_2363del	ENSP00000369325.3:p.Lys787ArgfsTer15
ENST00000379996.7:c.2360_2363del	ENSP00000369332.3:p.Lys787ArgfsTer15
ENST00000623535.1:c.2360_2363del	ENSP00000485244.1:p.Lys787ArgfsTer15
NM_001037343.1:c.2360_2363del	NP_001032420.1:p.Lys787ArgfsTer15
NM_003159.2:c.2360_2363del	NP_003150.1:p.Lys787ArgfsTer15
XM_011545569.1:c.2309_2312del	XP_011543871.1:p.Lys770ArgfsTer30
XM_011545570.1:c.2228_2231del	XP_011543872.1:p.Lys743ArgfsTer30
XR_950484.1:n.2612_2615del
NM_001323289.1:c.2360_2363del	NP_001310218.1:p.Lys787ArgfsTer15
NM_001323289.2:c.2360_2363del MANE Select	NP_001310218.1:p.Lys787ArgfsTer15
NM_001037343.2:c.2360_2363del	NP_001032420.1:p.Lys787ArgfsTer15
NM_003159.3:c.2360_2363del	NP_003150.1:p.Lys787ArgfsTer15