Canonical Allele Identifier: CA2417979425

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619911_18619915delinsAAGAG , CM000685.2:g.18619911_18619915delinsAAGAG	GRCh38
NC_000023.10:g.18638031_18638035delinsAAGAG , CM000685.1:g.18638031_18638035delinsAAGAG	GRCh37
NC_000023.9:g.18547952_18547956delinsAAGAG	NCBI36
NG_008475.1:g.199307_199311delinsAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2321_2325delinsAAGAG MANE Select	ENSP00000485244.1:p.Lys774=
ENST00000635828.1:c.2321_2325delinsAAGAG	ENSP00000490170.1:p.Lys774=
ENST00000674046.1:c.2321_2325delinsAAGAG	ENSP00000501174.1:p.Lys774=
ENST00000379989.6:c.2321_2325delinsAAGAG	ENSP00000369325.3:p.Lys774=
ENST00000379996.7:c.2321_2325delinsAAGAG	ENSP00000369332.3:p.Lys774=
ENST00000463994.4:c.2321_2325delinsAAGAG	ENSP00000485184.1:p.Lys774=
ENST00000623535.1:c.2321_2325delinsAAGAG	ENSP00000485244.1:p.Lys774=
NM_001037343.1:c.2321_2325delinsAAGAG	NP_001032420.1:p.Lys774=
NM_003159.2:c.2321_2325delinsAAGAG	NP_003150.1:p.Lys774=
XM_011545569.1:c.2270_2274delinsAAGAG	XP_011543871.1:p.Lys757=
XM_011545570.1:c.2189_2193delinsAAGAG	XP_011543872.1:p.Lys730=
XR_950484.1:n.2573_2577delinsAAGAG
NM_001323289.1:c.2321_2325delinsAAGAG	NP_001310218.1:p.Lys774=
NM_001323289.2:c.2321_2325delinsAAGAG MANE Select	NP_001310218.1:p.Lys774=
NM_001037343.2:c.2321_2325delinsAAGAG	NP_001032420.1:p.Lys774=
NM_003159.3:c.2321_2325delinsAAGAG	NP_003150.1:p.Lys774=