Canonical Allele Identifier: CA2417974354

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603931_18603932delinsAG , CM000685.2:g.18603931_18603932delinsAG	GRCh38
NC_000023.10:g.18622051_18622052delinsAG , CM000685.1:g.18622051_18622052delinsAG	GRCh37
NC_000023.9:g.18531972_18531973delinsAG	NCBI36
NG_008475.1:g.183327_183328delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.1007_1008delinsAG MANE Select	ENSP00000485244.1:p.Gln336=
ENST00000635828.1:c.1007_1008delinsAG	ENSP00000490170.1:p.Gln336=
ENST00000637881.1:c.1007_1008delinsAG	ENSP00000489879.1:p.Gln336=
ENST00000674046.1:c.1007_1008delinsAG	ENSP00000501174.1:p.Gln336=
ENST00000379989.6:c.1007_1008delinsAG	ENSP00000369325.3:p.Gln336=
ENST00000379996.7:c.1007_1008delinsAG	ENSP00000369332.3:p.Gln336=
ENST00000463994.4:c.1007_1008delinsAG	ENSP00000485184.1:p.Gln336=
ENST00000623535.1:c.1007_1008delinsAG	ENSP00000485244.1:p.Gln336=
NM_001037343.1:c.1007_1008delinsAG	NP_001032420.1:p.Gln336=
NM_003159.2:c.1007_1008delinsAG	NP_003150.1:p.Gln336=
XM_011545569.1:c.956_957delinsAG	XP_011543871.1:p.Gln319=
XM_011545570.1:c.875_876delinsAG	XP_011543872.1:p.Gln292=
XR_950484.1:n.1259_1260delinsAG
NM_001323289.1:c.1007_1008delinsAG	NP_001310218.1:p.Gln336=
NM_001323289.2:c.1007_1008delinsAG MANE Select	NP_001310218.1:p.Gln336=
NM_001037343.2:c.1007_1008delinsAG	NP_001032420.1:p.Gln336=
NM_003159.3:c.1007_1008delinsAG	NP_003150.1:p.Gln336=