Canonical Allele Identifier: CA2417979423

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619898C= , CM000685.2:g.18619898C=	GRCh38
NC_000023.10:g.18638018C= , CM000685.1:g.18638018C=	GRCh37
NC_000023.9:g.18547939C=	NCBI36
NG_008475.1:g.199294C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2308C= MANE Select	ENSP00000485244.1:p.Gln770=
ENST00000635828.1:c.2308C=	ENSP00000490170.1:p.Gln770=
ENST00000674046.1:c.2308C=	ENSP00000501174.1:p.Gln770=
ENST00000379989.6:c.2308C=	ENSP00000369325.3:p.Gln770=
ENST00000379996.7:c.2308C=	ENSP00000369332.3:p.Gln770=
ENST00000463994.4:c.2308C=	ENSP00000485184.1:p.Gln770=
ENST00000623535.1:c.2308C=	ENSP00000485244.1:p.Gln770=
NM_001037343.1:c.2308C=	NP_001032420.1:p.Gln770=
NM_003159.2:c.2308C=	NP_003150.1:p.Gln770=
XM_011545569.1:c.2257C=	XP_011543871.1:p.Gln753=
XM_011545570.1:c.2176C=	XP_011543872.1:p.Gln726=
XR_950484.1:n.2560C=
NM_001323289.1:c.2308C=	NP_001310218.1:p.Gln770=
NM_001323289.2:c.2308C= MANE Select	NP_001310218.1:p.Gln770=
NM_001037343.2:c.2308C=	NP_001032420.1:p.Gln770=
NM_003159.3:c.2308C=	NP_003150.1:p.Gln770=