Canonical Allele Identifier: CA2417979431

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619941_18619945delinsAAAAG , CM000685.2:g.18619941_18619945delinsAAAAG	GRCh38
NC_000023.10:g.18638061_18638065delinsAAAAG , CM000685.1:g.18638061_18638065delinsAAAAG	GRCh37
NC_000023.9:g.18547982_18547986delinsAAAAG	NCBI36
NG_008475.1:g.199337_199341delinsAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2351_2355delinsAAAAG MANE Select	ENSP00000485244.1:p.Lys784=
ENST00000635828.1:c.2351_2355delinsAAAAG	ENSP00000490170.1:p.Lys784=
ENST00000674046.1:c.2351_2355delinsAAAAG	ENSP00000501174.1:p.Lys784=
ENST00000379989.6:c.2351_2355delinsAAAAG	ENSP00000369325.3:p.Lys784=
ENST00000379996.7:c.2351_2355delinsAAAAG	ENSP00000369332.3:p.Lys784=
ENST00000623535.1:c.2351_2355delinsAAAAG	ENSP00000485244.1:p.Lys784=
NM_001037343.1:c.2351_2355delinsAAAAG	NP_001032420.1:p.Lys784=
NM_003159.2:c.2351_2355delinsAAAAG	NP_003150.1:p.Lys784=
XM_011545569.1:c.2300_2304delinsAAAAG	XP_011543871.1:p.Lys767=
XM_011545570.1:c.2219_2223delinsAAAAG	XP_011543872.1:p.Lys740=
XR_950484.1:n.2603_2607delinsAAAAG
NM_001323289.1:c.2351_2355delinsAAAAG	NP_001310218.1:p.Lys784=
NM_001323289.2:c.2351_2355delinsAAAAG MANE Select	NP_001310218.1:p.Lys784=
NM_001037343.2:c.2351_2355delinsAAAAG	NP_001032420.1:p.Lys784=
NM_003159.3:c.2351_2355delinsAAAAG	NP_003150.1:p.Lys784=