Canonical Allele Identifier: CA2417975834

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18608886_18608887delinsTC , CM000685.2:g.18608886_18608887delinsTC	GRCh38
NC_000023.10:g.18627006_18627007delinsTC , CM000685.1:g.18627006_18627007delinsTC	GRCh37
NC_000023.9:g.18536927_18536928delinsTC	NCBI36
NG_008475.1:g.188282_188283delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2020_2021delinsTC MANE Select	ENSP00000485244.1:p.Ser674=
ENST00000635828.1:c.2020_2021delinsTC	ENSP00000490170.1:p.Ser674=
ENST00000674046.1:c.2020_2021delinsTC	ENSP00000501174.1:p.Ser674=
ENST00000379989.6:c.2020_2021delinsTC	ENSP00000369325.3:p.Ser674=
ENST00000379996.7:c.2020_2021delinsTC	ENSP00000369332.3:p.Ser674=
ENST00000463994.4:c.2020_2021delinsTC	ENSP00000485184.1:p.Ser674=
ENST00000623535.1:c.2020_2021delinsTC	ENSP00000485244.1:p.Ser674=
NM_001037343.1:c.2020_2021delinsTC	NP_001032420.1:p.Ser674=
NM_003159.2:c.2020_2021delinsTC	NP_003150.1:p.Ser674=
XM_011545569.1:c.1969_1970delinsTC	XP_011543871.1:p.Ser657=
XM_011545570.1:c.1888_1889delinsTC	XP_011543872.1:p.Ser630=
XR_950484.1:n.2272_2273delinsTC
NM_001323289.1:c.2020_2021delinsTC	NP_001310218.1:p.Ser674=
NM_001323289.2:c.2020_2021delinsTC MANE Select	NP_001310218.1:p.Ser674=
NM_001037343.2:c.2020_2021delinsTC	NP_001032420.1:p.Ser674=
NM_003159.3:c.2020_2021delinsTC	NP_003150.1:p.Ser674=