Canonical Allele Identifier: CA2417974518

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604777_18604778delinsAC , CM000685.2:g.18604777_18604778delinsAC	GRCh38
NC_000023.10:g.18622897_18622898delinsAC , CM000685.1:g.18622897_18622898delinsAC	GRCh37
NC_000023.9:g.18532818_18532819delinsAC	NCBI36
NG_008475.1:g.184173_184174delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1853_1854delinsAC MANE Select	ENSP00000485244.1:p.Asp618=
ENST00000635828.1:c.1853_1854delinsAC	ENSP00000490170.1:p.Asp618=
ENST00000674046.1:c.1853_1854delinsAC	ENSP00000501174.1:p.Asp618=
ENST00000379989.6:c.1853_1854delinsAC	ENSP00000369325.3:p.Asp618=
ENST00000379996.7:c.1853_1854delinsAC	ENSP00000369332.3:p.Asp618=
ENST00000463994.4:c.1853_1854delinsAC	ENSP00000485184.1:p.Asp618=
ENST00000623535.1:c.1853_1854delinsAC	ENSP00000485244.1:p.Asp618=
NM_001037343.1:c.1853_1854delinsAC	NP_001032420.1:p.Asp618=
NM_003159.2:c.1853_1854delinsAC	NP_003150.1:p.Asp618=
XM_011545569.1:c.1802_1803delinsAC	XP_011543871.1:p.Asp601=
XM_011545570.1:c.1721_1722delinsAC	XP_011543872.1:p.Asp574=
XR_950484.1:n.2105_2106delinsAC
NM_001323289.1:c.1853_1854delinsAC	NP_001310218.1:p.Asp618=
NM_001323289.2:c.1853_1854delinsAC MANE Select	NP_001310218.1:p.Asp618=
NM_001037343.2:c.1853_1854delinsAC	NP_001032420.1:p.Asp618=
NM_003159.3:c.1853_1854delinsAC	NP_003150.1:p.Asp618=