Canonical Allele Identifier: CA2417982258

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628716C= , CM000685.2:g.18628716C=	GRCh38
NC_000023.10:g.18646836C= , CM000685.1:g.18646836C=	GRCh37
NC_000023.9:g.18556757C=	NCBI36
NG_008475.1:g.208112C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2842C= MANE Select	ENSP00000485244.1:p.Arg948=
ENST00000674046.1:c.2965C=	ENSP00000501174.1:p.Arg989=
ENST00000379989.6:c.2713+129C=	ENSP00000369325.3:n.2713+129C=
ENST00000379996.7:c.2713+129C=	ENSP00000369332.3:n.2713+129C=
ENST00000623535.1:c.2842C=	ENSP00000485244.1:p.Arg948=
NM_001037343.1:c.2713+129C=	NP_001032420.1:n.2713+129C=
NM_003159.2:c.2713+129C=	NP_003150.1:n.2713+129C=
XM_011545569.1:c.2785+129C=	XP_011543871.1:n.2785+129C=
XM_011545570.1:c.2704+129C=	XP_011543872.1:n.2704+129C=
XR_950484.1:n.3088+129C=
NM_001323289.1:c.2842C=	NP_001310218.1:p.Arg948=
NM_001323289.2:c.2842C= MANE Select	NP_001310218.1:p.Arg948=
NM_001037343.2:c.2713+129C=	NP_001032420.1:n.2713+129C=
NM_003159.3:c.2713+129C=	NP_003150.1:n.2713+129C=