Canonical Allele Identifier: CA2819902210

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644668_18644669insGT , CM000685.2:g.18644668_18644669insGT	GRCh38
NC_000023.10:g.18662788_18662789insGT , CM000685.1:g.18662788_18662789insGT	GRCh37
NC_000023.9:g.18572709_18572710insGT	NCBI36
NG_008475.1:g.224064_224065insGT
NG_008659.3:g.37780_37781insAC , LRG_702:g.37780_37781insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.327-44_327-43insAC (RS1) MANE Select	ENSP00000369320.3:n.327-44_327-43insAC
ENST00000379984.3:c.327-44_327-43insAC (RS1)	ENSP00000369320.3:n.327-44_327-43insAC
ENST00000379989.6:c.2714-1339_2714-1338insGT (CDKL5)	ENSP00000369325.3:n.2714-1339_2714-1338insGT
ENST00000379996.7:c.2714-1339_2714-1338insGT (CDKL5)	ENSP00000369332.3:n.2714-1339_2714-1338insGT
ENST00000476595.1:n.818-44_818-43insAC (RS1)
NM_000330.3:c.327-44_327-43insAC , LRG_702t1:c.327-44_327-43insAC (RS1)	NP_000321.1:n.327-44_327-43insAC
NM_001037343.1:c.2714-1339_2714-1338insGT (CDKL5)	NP_001032420.1:n.2714-1339_2714-1338insGT
NM_003159.2:c.2714-1339_2714-1338insGT (CDKL5)	NP_003150.1:n.2714-1339_2714-1338insGT
XM_011545569.1:c.2786-1339_2786-1338insGT (CDKL5)	XP_011543871.1:n.2786-1339_2786-1338insGT
XM_011545570.1:c.2705-1339_2705-1338insGT (CDKL5)	XP_011543872.1:n.2705-1339_2705-1338insGT
XR_950484.1:n.3089-1339_3089-1338insGT (CDKL5)
NM_000330.4:c.327-44_327-43insAC (RS1) MANE Select	NP_000321.1:n.327-44_327-43insAC
NM_001037343.2:c.2714-1339_2714-1338insGT (CDKL5)	NP_001032420.1:n.2714-1339_2714-1338insGT
NM_003159.3:c.2714-1339_2714-1338insGT (CDKL5)	NP_003150.1:n.2714-1339_2714-1338insGT