Canonical Allele Identifier: CA2819902206

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644666_18644667insA , CM000685.2:g.18644666_18644667insA	GRCh38
NC_000023.10:g.18662786_18662787insA , CM000685.1:g.18662786_18662787insA	GRCh37
NC_000023.9:g.18572707_18572708insA	NCBI36
NG_008475.1:g.224062_224063insA
NG_008659.3:g.37782_37783insT , LRG_702:g.37782_37783insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.327-42_327-41insT (RS1) MANE Select	ENSP00000369320.3:n.327-42_327-41insT
ENST00000379984.3:c.327-42_327-41insT (RS1)	ENSP00000369320.3:n.327-42_327-41insT
ENST00000379989.6:c.2714-1341_2714-1340insA (CDKL5)	ENSP00000369325.3:n.2714-1341_2714-1340insA
ENST00000379996.7:c.2714-1341_2714-1340insA (CDKL5)	ENSP00000369332.3:n.2714-1341_2714-1340insA
ENST00000476595.1:n.818-42_818-41insT (RS1)
NM_000330.3:c.327-42_327-41insT , LRG_702t1:c.327-42_327-41insT (RS1)	NP_000321.1:n.327-42_327-41insT
NM_001037343.1:c.2714-1341_2714-1340insA (CDKL5)	NP_001032420.1:n.2714-1341_2714-1340insA
NM_003159.2:c.2714-1341_2714-1340insA (CDKL5)	NP_003150.1:n.2714-1341_2714-1340insA
XM_011545569.1:c.2786-1341_2786-1340insA (CDKL5)	XP_011543871.1:n.2786-1341_2786-1340insA
XM_011545570.1:c.2705-1341_2705-1340insA (CDKL5)	XP_011543872.1:n.2705-1341_2705-1340insA
XR_950484.1:n.3089-1341_3089-1340insA (CDKL5)
NM_000330.4:c.327-42_327-41insT (RS1) MANE Select	NP_000321.1:n.327-42_327-41insT
NM_001037343.2:c.2714-1341_2714-1340insA (CDKL5)	NP_001032420.1:n.2714-1341_2714-1340insA
NM_003159.3:c.2714-1341_2714-1340insA (CDKL5)	NP_003150.1:n.2714-1341_2714-1340insA