Canonical Allele Identifier: CA2819902175

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644641_18644642insACA , CM000685.2:g.18644641_18644642insACA	GRCh38
NC_000023.10:g.18662761_18662762insACA , CM000685.1:g.18662761_18662762insACA	GRCh37
NC_000023.9:g.18572682_18572683insACA	NCBI36
NG_008475.1:g.224037_224038insACA
NG_008659.3:g.37807_37808insTGT , LRG_702:g.37807_37808insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.327-17_327-16insTGT (RS1) MANE Select	ENSP00000369320.3:n.327-17_327-16insTGT
ENST00000379984.3:c.327-17_327-16insTGT (RS1)	ENSP00000369320.3:n.327-17_327-16insTGT
ENST00000379989.6:c.2714-1366_2714-1365insACA (CDKL5)	ENSP00000369325.3:n.2714-1366_2714-1365insACA
ENST00000379996.7:c.2714-1366_2714-1365insACA (CDKL5)	ENSP00000369332.3:n.2714-1366_2714-1365insACA
ENST00000476595.1:n.818-17_818-16insTGT (RS1)
NM_000330.3:c.327-17_327-16insTGT , LRG_702t1:c.327-17_327-16insTGT (RS1)	NP_000321.1:n.327-17_327-16insTGT
NM_001037343.1:c.2714-1366_2714-1365insACA (CDKL5)	NP_001032420.1:n.2714-1366_2714-1365insACA
NM_003159.2:c.2714-1366_2714-1365insACA (CDKL5)	NP_003150.1:n.2714-1366_2714-1365insACA
XM_011545569.1:c.2786-1366_2786-1365insACA (CDKL5)	XP_011543871.1:n.2786-1366_2786-1365insACA
XM_011545570.1:c.2705-1366_2705-1365insACA (CDKL5)	XP_011543872.1:n.2705-1366_2705-1365insACA
XR_950484.1:n.3089-1366_3089-1365insACA (CDKL5)
NM_000330.4:c.327-17_327-16insTGT (RS1) MANE Select	NP_000321.1:n.327-17_327-16insTGT
NM_001037343.2:c.2714-1366_2714-1365insACA (CDKL5)	NP_001032420.1:n.2714-1366_2714-1365insACA
NM_003159.3:c.2714-1366_2714-1365insACA (CDKL5)	NP_003150.1:n.2714-1366_2714-1365insACA