Canonical Allele Identifier: CA2417982257

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628713T= , CM000685.2:g.18628713T=	GRCh38
NC_000023.10:g.18646833T= , CM000685.1:g.18646833T=	GRCh37
NC_000023.9:g.18556754T=	NCBI36
NG_008475.1:g.208109T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2839T= MANE Select	ENSP00000485244.1:p.Ser947=
ENST00000674046.1:c.2962T=	ENSP00000501174.1:p.Ser988=
ENST00000379989.6:c.2713+126T=	ENSP00000369325.3:n.2713+126T=
ENST00000379996.7:c.2713+126T=	ENSP00000369332.3:n.2713+126T=
ENST00000623535.1:c.2839T=	ENSP00000485244.1:p.Ser947=
NM_001037343.1:c.2713+126T=	NP_001032420.1:n.2713+126T=
NM_003159.2:c.2713+126T=	NP_003150.1:n.2713+126T=
XM_011545569.1:c.2785+126T=	XP_011543871.1:n.2785+126T=
XM_011545570.1:c.2704+126T=	XP_011543872.1:n.2704+126T=
XR_950484.1:n.3088+126T=
NM_001323289.1:c.2839T=	NP_001310218.1:p.Ser947=
NM_001323289.2:c.2839T= MANE Select	NP_001310218.1:p.Ser947=
NM_001037343.2:c.2713+126T=	NP_001032420.1:n.2713+126T=
NM_003159.3:c.2713+126T=	NP_003150.1:n.2713+126T=