Canonical Allele Identifier: CA2417981039

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18625245C= , CM000685.2:g.18625245C=	GRCh38
NC_000023.10:g.18643365C= , CM000685.1:g.18643365C=	GRCh37
NC_000023.9:g.18553286C=	NCBI36
NG_008475.1:g.204641C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001323289.2:c.2494C= MANE Select	NP_001310218.1:p.Gln832=
ENST00000623535.2:c.2494C= MANE Select	ENSP00000485244.1:p.Gln832=
NM_001037343.1:c.2494C=	NP_001032420.1:p.Gln832=
NM_001037343.2:c.2494C=	NP_001032420.1:p.Gln832=
NM_001323289.1:c.2494C=	NP_001310218.1:p.Gln832=
NM_003159.2:c.2494C=	NP_003150.1:p.Gln832=
NM_003159.3:c.2494C=	NP_003150.1:p.Gln832=
ENST00000379989.6:c.2494C=	ENSP00000369325.3:p.Gln832=
ENST00000379996.7:c.2494C=	ENSP00000369332.3:p.Gln832=
ENST00000623535.1:c.2494C=	ENSP00000485244.1:p.Gln832=
ENST00000635828.1:c.2494C=	ENSP00000490170.1:p.Gln832=
ENST00000674046.1:c.2617C=	ENSP00000501174.1:p.Gln873=
XM_011545569.1:c.2566C=	XP_011543871.1:p.Gln856=
XM_011545570.1:c.2485C=	XP_011543872.1:p.Gln829=
XR_950484.1:n.2869C=