Canonical Allele Identifier: CA2417974537

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604832_18604833delinsAG , CM000685.2:g.18604832_18604833delinsAG	GRCh38
NC_000023.10:g.18622952_18622953delinsAG , CM000685.1:g.18622952_18622953delinsAG	GRCh37
NC_000023.9:g.18532873_18532874delinsAG	NCBI36
NG_008475.1:g.184228_184229delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1908_1909delinsAG MANE Select	ENSP00000485244.1:p.Ala636=
ENST00000635828.1:c.1908_1909delinsAG	ENSP00000490170.1:p.Ala636=
ENST00000674046.1:c.1908_1909delinsAG	ENSP00000501174.1:p.Ala636=
ENST00000379989.6:c.1908_1909delinsAG	ENSP00000369325.3:p.Ala636=
ENST00000379996.7:c.1908_1909delinsAG	ENSP00000369332.3:p.Ala636=
ENST00000463994.4:c.1908_1909delinsAG	ENSP00000485184.1:p.Ala636=
ENST00000623535.1:c.1908_1909delinsAG	ENSP00000485244.1:p.Ala636=
NM_001037343.1:c.1908_1909delinsAG	NP_001032420.1:p.Ala636=
NM_003159.2:c.1908_1909delinsAG	NP_003150.1:p.Ala636=
XM_011545569.1:c.1857_1858delinsAG	XP_011543871.1:p.Ala619=
XM_011545570.1:c.1776_1777delinsAG	XP_011543872.1:p.Ala592=
XR_950484.1:n.2160_2161delinsAG
NM_001323289.1:c.1908_1909delinsAG	NP_001310218.1:p.Ala636=
NM_001323289.2:c.1908_1909delinsAG MANE Select	NP_001310218.1:p.Ala636=
NM_001037343.2:c.1908_1909delinsAG	NP_001032420.1:p.Ala636=
NM_003159.3:c.1908_1909delinsAG	NP_003150.1:p.Ala636=