Canonical Allele Identifier: CA2819901262

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18641836_18641837insACA , CM000685.2:g.18641836_18641837insACA	GRCh38
NC_000023.10:g.18659956_18659957insACA , CM000685.1:g.18659956_18659957insACA	GRCh37
NC_000023.9:g.18569877_18569878insACA	NCBI36
NG_008475.1:g.221232_221233insACA
NG_008659.3:g.40612_40613insTGT , LRG_702:g.40612_40613insTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000379984.4:c.*167_*168insTGT (RS1) MANE Select	ENSP00000369320.3:n.*167_*168insTGT
ENST00000379984.3:c.*167_*168insTGT (RS1)	ENSP00000369320.3:n.*167_*168insTGT
ENST00000379989.6:c.2714-4171_2714-4170insACA (CDKL5)	ENSP00000369325.3:n.2714-4171_2714-4170insACA
ENST00000379996.7:c.2714-4171_2714-4170insACA (CDKL5)	ENSP00000369332.3:n.2714-4171_2714-4170insACA
NM_000330.3:c.*167_*168insTGT , LRG_702t1:c.*167_*168insTGT (RS1)	NP_000321.1:n.*167_*168insTGT
NM_001037343.1:c.2714-4171_2714-4170insACA (CDKL5)	NP_001032420.1:n.2714-4171_2714-4170insACA
NM_003159.2:c.2714-4171_2714-4170insACA (CDKL5)	NP_003150.1:n.2714-4171_2714-4170insACA
XM_011545569.1:c.2786-4171_2786-4170insACA (CDKL5)	XP_011543871.1:n.2786-4171_2786-4170insACA
XM_011545570.1:c.2705-4171_2705-4170insACA (CDKL5)	XP_011543872.1:n.2705-4171_2705-4170insACA
XR_950484.1:n.3089-4171_3089-4170insACA (CDKL5)
NM_000330.4:c.*167_*168insTGT (RS1) MANE Select	NP_000321.1:n.*167_*168insTGT
NM_001037343.2:c.2714-4171_2714-4170insACA (CDKL5)	NP_001032420.1:n.2714-4171_2714-4170insACA
NM_003159.3:c.2714-4171_2714-4170insACA (CDKL5)	NP_003150.1:n.2714-4171_2714-4170insACA