Canonical Allele Identifier: CA2417982204

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628518G= , CM000685.2:g.18628518G=	GRCh38
NC_000023.10:g.18646638G= , CM000685.1:g.18646638G=	GRCh37
NC_000023.9:g.18556559G=	NCBI36
NG_008475.1:g.207914G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2644G= MANE Select	ENSP00000485244.1:p.Ala882=
ENST00000674046.1:c.2767G=	ENSP00000501174.1:p.Ala923=
ENST00000379989.6:c.2644G=	ENSP00000369325.3:p.Ala882=
ENST00000379996.7:c.2644G=	ENSP00000369332.3:p.Ala882=
ENST00000623535.1:c.2644G=	ENSP00000485244.1:p.Ala882=
NM_001037343.1:c.2644G=	NP_001032420.1:p.Ala882=
NM_003159.2:c.2644G=	NP_003150.1:p.Ala882=
XM_011545569.1:c.2716G=	XP_011543871.1:p.Ala906=
XM_011545570.1:c.2635G=	XP_011543872.1:p.Ala879=
XR_950484.1:n.3019G=
NM_001323289.1:c.2644G=	NP_001310218.1:p.Ala882=
NM_001323289.2:c.2644G= MANE Select	NP_001310218.1:p.Ala882=
NM_001037343.2:c.2644G=	NP_001032420.1:p.Ala882=
NM_003159.3:c.2644G=	NP_003150.1:p.Ala882=