Canonical Allele Identifier: CA2417987360

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644673_18644679delinsTGCAAAA , CM000685.2:g.18644673_18644679delinsTGCAAAA	GRCh38
NC_000023.10:g.18662793_18662799delinsTGCAAAA , CM000685.1:g.18662793_18662799delinsTGCAAAA	GRCh37
NC_000023.9:g.18572714_18572720delinsTGCAAAA	NCBI36
NG_008475.1:g.224069_224075delinsTGCAAAA
NG_008659.3:g.37770_37776delinsTTTTGCA , LRG_702:g.37770_37776delinsTTTTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.327-54_327-48delinsTTTTGCA (RS1) MANE Select	ENSP00000369320.3:n.327-54_327-48delinsTTTTGCA
ENST00000379984.3:c.327-54_327-48delinsTTTTGCA (RS1)	ENSP00000369320.3:n.327-54_327-48delinsTTTTGCA
ENST00000379989.6:c.2714-1334_2714-1328delinsTGCAAAA (CDKL5)	ENSP00000369325.3:n.2714-1334_2714-1328delinsTGCAAAA
ENST00000379996.7:c.2714-1334_2714-1328delinsTGCAAAA (CDKL5)	ENSP00000369332.3:n.2714-1334_2714-1328delinsTGCAAAA
ENST00000476595.1:n.818-54_818-48delinsTTTTGCA (RS1)
NM_000330.3:c.327-54_327-48delinsTTTTGCA , LRG_702t1:c.327-54_327-48delinsTTTTGCA (RS1)	NP_000321.1:n.327-54_327-48delinsTTTTGCA
NM_001037343.1:c.2714-1334_2714-1328delinsTGCAAAA (CDKL5)	NP_001032420.1:n.2714-1334_2714-1328delinsTGCAAAA
NM_003159.2:c.2714-1334_2714-1328delinsTGCAAAA (CDKL5)	NP_003150.1:n.2714-1334_2714-1328delinsTGCAAAA
XM_011545569.1:c.2786-1334_2786-1328delinsTGCAAAA (CDKL5)	XP_011543871.1:n.2786-1334_2786-1328delinsTGCAAAA
XM_011545570.1:c.2705-1334_2705-1328delinsTGCAAAA (CDKL5)	XP_011543872.1:n.2705-1334_2705-1328delinsTGCAAAA
XR_950484.1:n.3089-1334_3089-1328delinsTGCAAAA (CDKL5)
NM_000330.4:c.327-54_327-48delinsTTTTGCA (RS1) MANE Select	NP_000321.1:n.327-54_327-48delinsTTTTGCA
NM_001037343.2:c.2714-1334_2714-1328delinsTGCAAAA (CDKL5)	NP_001032420.1:n.2714-1334_2714-1328delinsTGCAAAA
NM_003159.3:c.2714-1334_2714-1328delinsTGCAAAA (CDKL5)	NP_003150.1:n.2714-1334_2714-1328delinsTGCAAAA