Canonical Allele Identifier: CA2417982203

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628515C= , CM000685.2:g.18628515C=	GRCh38
NC_000023.10:g.18646635C= , CM000685.1:g.18646635C=	GRCh37
NC_000023.9:g.18556556C=	NCBI36
NG_008475.1:g.207911C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2641C= MANE Select	ENSP00000485244.1:p.Gln881=
ENST00000674046.1:c.2764C=	ENSP00000501174.1:p.Gln922=
ENST00000379989.6:c.2641C=	ENSP00000369325.3:p.Gln881=
ENST00000379996.7:c.2641C=	ENSP00000369332.3:p.Gln881=
ENST00000623535.1:c.2641C=	ENSP00000485244.1:p.Gln881=
NM_001037343.1:c.2641C=	NP_001032420.1:p.Gln881=
NM_003159.2:c.2641C=	NP_003150.1:p.Gln881=
XM_011545569.1:c.2713C=	XP_011543871.1:p.Gln905=
XM_011545570.1:c.2632C=	XP_011543872.1:p.Gln878=
XR_950484.1:n.3016C=
NM_001323289.1:c.2641C=	NP_001310218.1:p.Gln881=
NM_001323289.2:c.2641C= MANE Select	NP_001310218.1:p.Gln881=
NM_001037343.2:c.2641C=	NP_001032420.1:p.Gln881=
NM_003159.3:c.2641C=	NP_003150.1:p.Gln881=