Canonical Allele Identifier: CA2695231586

Gene: RS1 CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18644601_18644602insA , CM000685.2:g.18644601_18644602insA	GRCh38
NC_000023.10:g.18662721_18662722insA , CM000685.1:g.18662721_18662722insA	GRCh37
NC_000023.9:g.18572642_18572643insA	NCBI36
NG_008475.1:g.223997_223998insA
NG_008659.3:g.37847_37848insT , LRG_702:g.37847_37848insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.350_351insT (RS1) MANE Select	ENSP00000369320.3:p.Gln117HisfsTer4
ENST00000379984.3:c.350_351insT (RS1)	ENSP00000369320.3:p.Gln117HisfsTer4
ENST00000379989.6:c.2714-1406_2714-1405insA (CDKL5)	ENSP00000369325.3:n.2714-1406_2714-1405insA
ENST00000379996.7:c.2714-1406_2714-1405insA (CDKL5)	ENSP00000369332.3:n.2714-1406_2714-1405insA
ENST00000476595.1:n.841_842insT (RS1)
NM_000330.3:c.350_351insT , LRG_702t1:c.350_351insT (RS1)	NP_000321.1:p.Gln117HisfsTer4
NM_001037343.1:c.2714-1406_2714-1405insA (CDKL5)	NP_001032420.1:n.2714-1406_2714-1405insA
NM_003159.2:c.2714-1406_2714-1405insA (CDKL5)	NP_003150.1:n.2714-1406_2714-1405insA
XM_011545569.1:c.2786-1406_2786-1405insA (CDKL5)	XP_011543871.1:n.2786-1406_2786-1405insA
XM_011545570.1:c.2705-1406_2705-1405insA (CDKL5)	XP_011543872.1:n.2705-1406_2705-1405insA
XR_950484.1:n.3089-1406_3089-1405insA (CDKL5)
NM_000330.4:c.350_351insT (RS1) MANE Select	NP_000321.1:p.Gln117HisfsTer4
NM_001037343.2:c.2714-1406_2714-1405insA (CDKL5)	NP_001032420.1:n.2714-1406_2714-1405insA
NM_003159.3:c.2714-1406_2714-1405insA (CDKL5)	NP_003150.1:n.2714-1406_2714-1405insA