Canonical Allele Identifier: CA2417974419

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604472_18604473delinsCT , CM000685.2:g.18604472_18604473delinsCT	GRCh38
NC_000023.10:g.18622592_18622593delinsCT , CM000685.1:g.18622592_18622593delinsCT	GRCh37
NC_000023.9:g.18532513_18532514delinsCT	NCBI36
NG_008475.1:g.183868_183869delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.1548_1549delinsCT MANE Select	ENSP00000485244.1:p.Tyr516=
ENST00000635828.1:c.1548_1549delinsCT	ENSP00000490170.1:p.Tyr516=
ENST00000674046.1:c.1548_1549delinsCT	ENSP00000501174.1:p.Tyr516=
ENST00000379989.6:c.1548_1549delinsCT	ENSP00000369325.3:p.Tyr516=
ENST00000379996.7:c.1548_1549delinsCT	ENSP00000369332.3:p.Tyr516=
ENST00000463994.4:c.1548_1549delinsCT	ENSP00000485184.1:p.Tyr516=
ENST00000623535.1:c.1548_1549delinsCT	ENSP00000485244.1:p.Tyr516=
NM_001037343.1:c.1548_1549delinsCT	NP_001032420.1:p.Tyr516=
NM_003159.2:c.1548_1549delinsCT	NP_003150.1:p.Tyr516=
XM_011545569.1:c.1497_1498delinsCT	XP_011543871.1:p.Tyr499=
XM_011545570.1:c.1416_1417delinsCT	XP_011543872.1:p.Tyr472=
XR_950484.1:n.1800_1801delinsCT
NM_001323289.1:c.1548_1549delinsCT	NP_001310218.1:p.Tyr516=
NM_001323289.2:c.1548_1549delinsCT MANE Select	NP_001310218.1:p.Tyr516=
NM_001037343.2:c.1548_1549delinsCT	NP_001032420.1:p.Tyr516=
NM_003159.3:c.1548_1549delinsCT	NP_003150.1:p.Tyr516=