Canonical Allele Identifier: CA2819902194

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644663_18644664insAG , CM000685.2:g.18644663_18644664insAG	GRCh38
NC_000023.10:g.18662783_18662784insAG , CM000685.1:g.18662783_18662784insAG	GRCh37
NC_000023.9:g.18572704_18572705insAG	NCBI36
NG_008475.1:g.224059_224060insAG
NG_008659.3:g.37785_37786insCT , LRG_702:g.37785_37786insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.327-39_327-38insCT (RS1) MANE Select	ENSP00000369320.3:n.327-39_327-38insCT
ENST00000379984.3:c.327-39_327-38insCT (RS1)	ENSP00000369320.3:n.327-39_327-38insCT
ENST00000379989.6:c.2714-1344_2714-1343insAG (CDKL5)	ENSP00000369325.3:n.2714-1344_2714-1343insAG
ENST00000379996.7:c.2714-1344_2714-1343insAG (CDKL5)	ENSP00000369332.3:n.2714-1344_2714-1343insAG
ENST00000476595.1:n.818-39_818-38insCT (RS1)
NM_000330.3:c.327-39_327-38insCT , LRG_702t1:c.327-39_327-38insCT (RS1)	NP_000321.1:n.327-39_327-38insCT
NM_001037343.1:c.2714-1344_2714-1343insAG (CDKL5)	NP_001032420.1:n.2714-1344_2714-1343insAG
NM_003159.2:c.2714-1344_2714-1343insAG (CDKL5)	NP_003150.1:n.2714-1344_2714-1343insAG
XM_011545569.1:c.2786-1344_2786-1343insAG (CDKL5)	XP_011543871.1:n.2786-1344_2786-1343insAG
XM_011545570.1:c.2705-1344_2705-1343insAG (CDKL5)	XP_011543872.1:n.2705-1344_2705-1343insAG
XR_950484.1:n.3089-1344_3089-1343insAG (CDKL5)
NM_000330.4:c.327-39_327-38insCT (RS1) MANE Select	NP_000321.1:n.327-39_327-38insCT
NM_001037343.2:c.2714-1344_2714-1343insAG (CDKL5)	NP_001032420.1:n.2714-1344_2714-1343insAG
NM_003159.3:c.2714-1344_2714-1343insAG (CDKL5)	NP_003150.1:n.2714-1344_2714-1343insAG