Canonical Allele Identifier: CA2417982246

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628666G= , CM000685.2:g.18628666G=	GRCh38
NC_000023.10:g.18646786G= , CM000685.1:g.18646786G=	GRCh37
NC_000023.9:g.18556707G=	NCBI36
NG_008475.1:g.208062G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2792G= MANE Select	ENSP00000485244.1:p.Gly931=
ENST00000674046.1:c.2915G=	ENSP00000501174.1:p.Gly972=
ENST00000379989.6:c.2713+79G=	ENSP00000369325.3:n.2713+79G=
ENST00000379996.7:c.2713+79G=	ENSP00000369332.3:n.2713+79G=
ENST00000623535.1:c.2792G=	ENSP00000485244.1:p.Gly931=
NM_001037343.1:c.2713+79G=	NP_001032420.1:n.2713+79G=
NM_003159.2:c.2713+79G=	NP_003150.1:n.2713+79G=
XM_011545569.1:c.2785+79G=	XP_011543871.1:n.2785+79G=
XM_011545570.1:c.2704+79G=	XP_011543872.1:n.2704+79G=
XR_950484.1:n.3088+79G=
NM_001323289.1:c.2792G=	NP_001310218.1:p.Gly931=
NM_001323289.2:c.2792G= MANE Select	NP_001310218.1:p.Gly931=
NM_001037343.2:c.2713+79G=	NP_001032420.1:n.2713+79G=
NM_003159.3:c.2713+79G=	NP_003150.1:n.2713+79G=