Canonical Allele Identifier: CA170456

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 143785
• ClinVar RCV Id: RCV000133332 ; RCV000170012 ; RCV000170013
• dbSNP Id: rs62643608
• MyVariant Identifiers: chrX:g.18593511del (hg19) ; chrX:g.18575391del (hg38)
• PubMed: PMID:15492925

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18575391del , CM000685.2:g.18575391del	GRCh38
NC_000023.10:g.18593511del , CM000685.1:g.18593511del	GRCh37
NC_000023.9:g.18503432del	NCBI36
NG_008475.1:g.154787del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.183del MANE Select	ENSP00000485244.1:p.Met63CysfsTer13
ENST00000635828.1:c.183del	ENSP00000490170.1:p.Met63CysfsTer13
ENST00000637881.1:c.183del	ENSP00000489879.1:p.Met63CysfsTer13
ENST00000674046.1:c.183del	ENSP00000501174.1:p.Met63CysfsTer13
ENST00000379989.6:c.183del	ENSP00000369325.3:p.Met63CysfsTer13
ENST00000379996.7:c.183del	ENSP00000369332.3:p.Met63CysfsTer13
ENST00000463994.4:c.183del	ENSP00000485184.1:p.Met63CysfsTer13
ENST00000623535.1:c.183del	ENSP00000485244.1:p.Met63CysfsTer13
ENST00000624700.3:c.183del	ENSP00000485359.1:p.Met63CysfsTer?
NM_001037343.1:c.183del	NP_001032420.1:p.Met63CysfsTer13
NM_003159.2:c.183del	NP_003150.1:p.Met63CysfsTer13
XM_011545569.1:c.183del	XP_011543871.1:p.Met63CysfsTer13
XM_011545570.1:c.51del	XP_011543872.1:p.Met19CysfsTer13
XR_950484.1:n.435del
NM_001323289.1:c.183del	NP_001310218.1:p.Met63CysfsTer13
NM_001323289.2:c.183del MANE Select	NP_001310218.1:p.Met63CysfsTer13
NM_001037343.2:c.183del	NP_001032420.1:p.Met63CysfsTer13
NM_003159.3:c.183del	NP_003150.1:p.Met63CysfsTer13