Canonical Allele Identifier: CA2573055181

Gene: CDKL5

Linked Data

• ClinVar Variation Id: 1338216
• ClinVar RCV Id: RCV001822814
• dbSNP Id: rs2147139532

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18575363_18575364del , CM000685.2:g.18575363_18575364del	GRCh38
NC_000023.10:g.18593483_18593484del , CM000685.1:g.18593483_18593484del	GRCh37
NC_000023.9:g.18503404_18503405del	NCBI36
NG_008475.1:g.154759_154760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.155_156del MANE Select	ENSP00000485244.1:p.Glu52GlyfsTer10
ENST00000635828.1:c.155_156del	ENSP00000490170.1:p.Glu52GlyfsTer10
ENST00000637881.1:c.155_156del	ENSP00000489879.1:p.Glu52GlyfsTer10
ENST00000674046.1:c.155_156del	ENSP00000501174.1:p.Glu52GlyfsTer10
ENST00000379989.6:c.155_156del	ENSP00000369325.3:p.Glu52GlyfsTer10
ENST00000379996.7:c.155_156del	ENSP00000369332.3:p.Glu52GlyfsTer10
ENST00000463994.4:c.155_156del	ENSP00000485184.1:p.Glu52GlyfsTer10
ENST00000623364.3:c.155_156del	ENSP00000485581.1:p.Glu52GlyfsTer?
ENST00000623535.1:c.155_156del	ENSP00000485244.1:p.Glu52GlyfsTer10
ENST00000624700.3:c.155_156del	ENSP00000485359.1:p.Glu52GlyfsTer10
NM_001037343.1:c.155_156del	NP_001032420.1:p.Glu52GlyfsTer10
NM_003159.2:c.155_156del	NP_003150.1:p.Glu52GlyfsTer10
XM_011545569.1:c.155_156del	XP_011543871.1:p.Glu52GlyfsTer10
XM_011545570.1:c.23_24del	XP_011543872.1:p.Glu8GlyfsTer10
XR_950484.1:n.407_408del
NM_001323289.1:c.155_156del	NP_001310218.1:p.Glu52GlyfsTer10
NM_001323289.2:c.155_156del MANE Select	NP_001310218.1:p.Glu52GlyfsTer10
NM_001037343.2:c.155_156del	NP_001032420.1:p.Glu52GlyfsTer10
NM_003159.3:c.155_156del	NP_003150.1:p.Glu52GlyfsTer10