Canonical Allele Identifier: CA658825121

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 560636
• ClinVar RCV Id: RCV000678785
• dbSNP Id: rs1569219844
• MyVariant Identifiers: chrX:g.18622965_18622966del (hg19) ; chrX:g.18604845_18604846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604845_18604846del , CM000685.2:g.18604845_18604846del	GRCh38
NC_000023.10:g.18622965_18622966del , CM000685.1:g.18622965_18622966del	GRCh37
NC_000023.9:g.18532886_18532887del	NCBI36
NG_008475.1:g.184241_184242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1921_1922del MANE Select	ENSP00000485244.1:p.Ser641ProfsTer?
ENST00000635828.1:c.1921_1922del	ENSP00000490170.1:p.Ser641ProfsTer?
ENST00000674046.1:c.1921_1922del	ENSP00000501174.1:p.Ser641ProfsTer?
ENST00000379989.6:c.1921_1922del	ENSP00000369325.3:p.Ser641ProfsTer?
ENST00000379996.7:c.1921_1922del	ENSP00000369332.3:p.Ser641ProfsTer?
ENST00000463994.4:c.1921_1922del	ENSP00000485184.1:p.Ser641ProfsTer?
ENST00000623535.1:c.1921_1922del	ENSP00000485244.1:p.Ser641ProfsTer?
NM_001037343.1:c.1921_1922del	NP_001032420.1:p.Ser641ProfsTer?
NM_003159.2:c.1921_1922del	NP_003150.1:p.Ser641ProfsTer?
XM_011545569.1:c.1870_1871del	XP_011543871.1:p.Ser624ProfsTer?
XM_011545570.1:c.1789_1790del	XP_011543872.1:p.Ser597ProfsTer?
XR_950484.1:n.2173_2174del
NM_001323289.1:c.1921_1922del	NP_001310218.1:p.Ser641ProfsTer?
NM_001323289.2:c.1921_1922del MANE Select	NP_001310218.1:p.Ser641ProfsTer?
NM_001037343.2:c.1921_1922del	NP_001032420.1:p.Ser641ProfsTer?
NM_003159.3:c.1921_1922del	NP_003150.1:p.Ser641ProfsTer?