Canonical Allele Identifier: CA199373

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 189551
• ClinVar RCV Id: RCV000169991
• dbSNP Id: rs786204964
• MyVariant Identifiers: chrX:g.18622052_18622073del (hg19) ; chrX:g.18603932_18603953del (hg38)
• PubMed: PMID:23064044

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603932_18603953del , CM000685.2:g.18603932_18603953del	GRCh38
NC_000023.10:g.18622052_18622073del , CM000685.1:g.18622052_18622073del	GRCh37
NC_000023.9:g.18531973_18531994del	NCBI36
NG_008475.1:g.183328_183349del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.1008_1029del MANE Select	ENSP00000485244.1:p.Ser337ArgfsTer6
ENST00000635828.1:c.1008_1029del	ENSP00000490170.1:p.Ser337ArgfsTer6
ENST00000637881.1:c.1008_1029del	ENSP00000489879.1:p.Ser337ArgfsTer6
ENST00000674046.1:c.1008_1029del	ENSP00000501174.1:p.Ser337ArgfsTer6
ENST00000379989.6:c.1008_1029del	ENSP00000369325.3:p.Ser337ArgfsTer6
ENST00000379996.7:c.1008_1029del	ENSP00000369332.3:p.Ser337ArgfsTer6
ENST00000463994.4:c.1008_1029del	ENSP00000485184.1:p.Ser337ArgfsTer6
ENST00000623535.1:c.1008_1029del	ENSP00000485244.1:p.Ser337ArgfsTer6
NM_001037343.1:c.1008_1029del	NP_001032420.1:p.Ser337ArgfsTer6
NM_003159.2:c.1008_1029del	NP_003150.1:p.Ser337ArgfsTer6
XM_011545569.1:c.957_978del	XP_011543871.1:p.Ser320ArgfsTer6
XM_011545570.1:c.876_897del	XP_011543872.1:p.Ser293ArgfsTer6
XR_950484.1:n.1260_1281del
NM_001323289.1:c.1008_1029del	NP_001310218.1:p.Ser337ArgfsTer6
NM_001323289.2:c.1008_1029del MANE Select	NP_001310218.1:p.Ser337ArgfsTer6
NM_001037343.2:c.1008_1029del	NP_001032420.1:p.Ser337ArgfsTer6
NM_003159.3:c.1008_1029del	NP_003150.1:p.Ser337ArgfsTer6