Canonical Allele Identifier: CA2417986510

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642006A= , CM000685.2:g.18642006A=	GRCh38
NC_000023.10:g.18660126A= , CM000685.1:g.18660126A=	GRCh37
NC_000023.9:g.18570047A=	NCBI36
NG_008475.1:g.221402A=
NG_008659.3:g.40443T= , LRG_702:g.40443T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.673T= (RS1) MANE Select	ENSP00000369320.3:p.Ter225=
ENST00000379984.3:c.673T= (RS1)	ENSP00000369320.3:p.Ter225=
ENST00000379989.6:c.2714-4001A= (CDKL5)	ENSP00000369325.3:n.2714-4001A=
ENST00000379996.7:c.2714-4001A= (CDKL5)	ENSP00000369332.3:n.2714-4001A=
ENST00000476595.1:n.1164T= (RS1)
NM_000330.3:c.673T= , LRG_702t1:c.673T= (RS1)	NP_000321.1:p.Ter225=
NM_001037343.1:c.2714-4001A= (CDKL5)	NP_001032420.1:n.2714-4001A=
NM_003159.2:c.2714-4001A= (CDKL5)	NP_003150.1:n.2714-4001A=
XM_011545569.1:c.2786-4001A= (CDKL5)	XP_011543871.1:n.2786-4001A=
XM_011545570.1:c.2705-4001A= (CDKL5)	XP_011543872.1:n.2705-4001A=
XR_950484.1:n.3089-4001A= (CDKL5)
NM_000330.4:c.673T= (RS1) MANE Select	NP_000321.1:p.Ter225=
NM_001037343.2:c.2714-4001A= (CDKL5)	NP_001032420.1:n.2714-4001A=
NM_003159.3:c.2714-4001A= (CDKL5)	NP_003150.1:n.2714-4001A=