Canonical Allele Identifier: CA658684281

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 441534
• ClinVar RCV Id: RCV000578482 ; RCV003766891
• dbSNP Id: rs1555955290
• MyVariant Identifiers: chrX:g.18646822_18646823del (hg19) ; chrX:g.18628702_18628703del (hg38)
• PubMed: PMID:29444904

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628702_18628703del , CM000685.2:g.18628702_18628703del	GRCh38
NC_000023.10:g.18646822_18646823del , CM000685.1:g.18646822_18646823del	GRCh37
NC_000023.9:g.18556743_18556744del	NCBI36
NG_008475.1:g.208098_208099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2828_2829del MANE Select	ENSP00000485244.1:p.Arg943AsnfsTer11
ENST00000674046.1:c.2951_2952del	ENSP00000501174.1:p.Arg984AsnfsTer11
ENST00000379989.6:c.2713+115_2713+116del	ENSP00000369325.3:n.2713+115_2713+116del
ENST00000379996.7:c.2713+115_2713+116del	ENSP00000369332.3:n.2713+115_2713+116del
ENST00000623535.1:c.2828_2829del	ENSP00000485244.1:p.Arg943AsnfsTer11
NM_001037343.1:c.2713+115_2713+116del	NP_001032420.1:n.2713+115_2713+116del
NM_003159.2:c.2713+115_2713+116del	NP_003150.1:n.2713+115_2713+116del
XM_011545569.1:c.2785+115_2785+116del	XP_011543871.1:n.2785+115_2785+116del
XM_011545570.1:c.2704+115_2704+116del	XP_011543872.1:n.2704+115_2704+116del
XR_950484.1:n.3088+115_3088+116del
NM_001323289.1:c.2828_2829del	NP_001310218.1:p.Arg943AsnfsTer11
NM_001323289.2:c.2828_2829del MANE Select	NP_001310218.1:p.Arg943AsnfsTer11
NM_001037343.2:c.2713+115_2713+116del	NP_001032420.1:n.2713+115_2713+116del
NM_003159.3:c.2713+115_2713+116del	NP_003150.1:n.2713+115_2713+116del