Canonical Allele Identifier: CA2499226536

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1072905
• ClinVar RCV Id: RCV001385749
• dbSNP Id: rs2147160886

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604508dup , CM000685.2:g.18604508dup	GRCh38
NC_000023.10:g.18622628dup , CM000685.1:g.18622628dup	GRCh37
NC_000023.9:g.18532549dup	NCBI36
NG_008475.1:g.183904dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1584dup MANE Select	ENSP00000485244.1:p.Ser529GlnfsTer9
ENST00000635828.1:c.1584dup	ENSP00000490170.1:p.Ser529GlnfsTer9
ENST00000674046.1:c.1584dup	ENSP00000501174.1:p.Ser529GlnfsTer9
ENST00000379989.6:c.1584dup	ENSP00000369325.3:p.Ser529GlnfsTer9
ENST00000379996.7:c.1584dup	ENSP00000369332.3:p.Ser529GlnfsTer9
ENST00000463994.4:c.1584dup	ENSP00000485184.1:p.Ser529GlnfsTer9
ENST00000623535.1:c.1584dup	ENSP00000485244.1:p.Ser529GlnfsTer9
NM_001037343.1:c.1584dup	NP_001032420.1:p.Ser529GlnfsTer9
NM_003159.2:c.1584dup	NP_003150.1:p.Ser529GlnfsTer9
XM_011545569.1:c.1533dup	XP_011543871.1:p.Ser512GlnfsTer9
XM_011545570.1:c.1452dup	XP_011543872.1:p.Ser485GlnfsTer9
XR_950484.1:n.1836dup
NM_001323289.1:c.1584dup	NP_001310218.1:p.Ser529GlnfsTer9
NM_001323289.2:c.1584dup MANE Select	NP_001310218.1:p.Ser529GlnfsTer9
NM_001037343.2:c.1584dup	NP_001032420.1:p.Ser529GlnfsTer9
NM_003159.3:c.1584dup	NP_003150.1:p.Ser529GlnfsTer9