Canonical Allele Identifier: CA294684

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 156646
• ClinVar RCV Id: RCV000144789
• dbSNP Id: rs587783118
• MyVariant Identifiers: chrX:g.18622953del (hg19) ; chrX:g.18604833del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604833del , CM000685.2:g.18604833del	GRCh38
NC_000023.10:g.18622953del , CM000685.1:g.18622953del	GRCh37
NC_000023.9:g.18532874del	NCBI36
NG_008475.1:g.184229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1909del MANE Select	ENSP00000485244.1:p.Ala637LeufsTer21
ENST00000635828.1:c.1909del	ENSP00000490170.1:p.Ala637LeufsTer21
ENST00000674046.1:c.1909del	ENSP00000501174.1:p.Ala637LeufsTer21
ENST00000379989.6:c.1909del	ENSP00000369325.3:p.Ala637LeufsTer21
ENST00000379996.7:c.1909del	ENSP00000369332.3:p.Ala637LeufsTer21
ENST00000463994.4:c.1909del	ENSP00000485184.1:p.Ala637LeufsTer21
ENST00000623535.1:c.1909del	ENSP00000485244.1:p.Ala637LeufsTer21
NM_001037343.1:c.1909del	NP_001032420.1:p.Ala637LeufsTer21
NM_003159.2:c.1909del	NP_003150.1:p.Ala637LeufsTer21
XM_011545569.1:c.1858del	XP_011543871.1:p.Ala620LeufsTer21
XM_011545570.1:c.1777del	XP_011543872.1:p.Ala593LeufsTer21
XR_950484.1:n.2161del
NM_001323289.1:c.1909del	NP_001310218.1:p.Ala637LeufsTer21
NM_001323289.2:c.1909del MANE Select	NP_001310218.1:p.Ala637LeufsTer21
NM_001037343.2:c.1909del	NP_001032420.1:p.Ala637LeufsTer21
NM_003159.3:c.1909del	NP_003150.1:p.Ala637LeufsTer21