Canonical Allele Identifier: CA218972

Gene: RS1 CDKL5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18642098_18642100dup , CM000685.2:g.18642098_18642100dup	GRCh38
NC_000023.10:g.18660218_18660220dup , CM000685.1:g.18660218_18660220dup	GRCh37
NC_000023.9:g.18570139_18570141dup	NCBI36
NG_008475.1:g.221494_221496dup
NG_008659.3:g.40353_40355dup , LRG_702:g.40353_40355dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.583_585dup (RS1) MANE Select	ENSP00000369320.3:p.Ile195_Ser196insIle
ENST00000379984.3:c.583_585dup (RS1)	ENSP00000369320.3:p.Ile195_Ser196insIle
ENST00000379989.6:c.2714-3909_2714-3907dup (CDKL5)	ENSP00000369325.3:n.2714-3909_2714-3907dup
ENST00000379996.7:c.2714-3909_2714-3907dup (CDKL5)	ENSP00000369332.3:n.2714-3909_2714-3907dup
ENST00000476595.1:n.1074_1076dup (RS1)
NM_000330.3:c.583_585dup , LRG_702t1:c.583_585dup (RS1)	NP_000321.1:p.Ile195_Ser196insIle
NM_001037343.1:c.2714-3909_2714-3907dup (CDKL5)	NP_001032420.1:n.2714-3909_2714-3907dup
NM_003159.2:c.2714-3909_2714-3907dup (CDKL5)	NP_003150.1:n.2714-3909_2714-3907dup
XM_011545569.1:c.2786-3909_2786-3907dup (CDKL5)	XP_011543871.1:n.2786-3909_2786-3907dup
XM_011545570.1:c.2705-3909_2705-3907dup (CDKL5)	XP_011543872.1:n.2705-3909_2705-3907dup
XR_950484.1:n.3089-3909_3089-3907dup (CDKL5)
NM_000330.4:c.583_585dup (RS1) MANE Select	NP_000321.1:p.Ile195_Ser196insIle
NM_001037343.2:c.2714-3909_2714-3907dup (CDKL5)	NP_001032420.1:n.2714-3909_2714-3907dup
NM_003159.3:c.2714-3909_2714-3907dup (CDKL5)	NP_003150.1:n.2714-3909_2714-3907dup