Canonical Allele Identifier: CA2417966740

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18579918_18579928delinsAGCTAATCAAG , CM000685.2:g.18579918_18579928delinsAGCTAATCAAG	GRCh38
NC_000023.10:g.18598038_18598048delinsAGCTAATCAAG , CM000685.1:g.18598038_18598048delinsAGCTAATCAAG	GRCh37
NC_000023.9:g.18507959_18507969delinsAGCTAATCAAG	NCBI36
NG_008475.1:g.159314_159324delinsAGCTAATCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.353_363delinsAGCTAATCAAG MANE Select	ENSP00000485244.1:p.Gln118=
ENST00000635828.1:c.353_363delinsAGCTAATCAAG	ENSP00000490170.1:p.Gln118=
ENST00000637881.1:c.353_363delinsAGCTAATCAAG	ENSP00000489879.1:p.Gln118=
ENST00000674046.1:c.353_363delinsAGCTAATCAAG	ENSP00000501174.1:p.Gln118=
ENST00000379989.6:c.353_363delinsAGCTAATCAAG	ENSP00000369325.3:p.Gln118=
ENST00000379996.7:c.353_363delinsAGCTAATCAAG	ENSP00000369332.3:p.Gln118=
ENST00000463994.4:c.353_363delinsAGCTAATCAAG	ENSP00000485184.1:p.Gln118=
ENST00000623535.1:c.353_363delinsAGCTAATCAAG	ENSP00000485244.1:p.Gln118=
NM_001037343.1:c.353_363delinsAGCTAATCAAG	NP_001032420.1:p.Gln118=
NM_003159.2:c.353_363delinsAGCTAATCAAG	NP_003150.1:p.Gln118=
XM_011545569.1:c.353_363delinsAGCTAATCAAG	XP_011543871.1:p.Gln118=
XM_011545570.1:c.221_231delinsAGCTAATCAAG	XP_011543872.1:p.Gln74=
XR_950484.1:n.605_615delinsAGCTAATCAAG
NM_001323289.1:c.353_363delinsAGCTAATCAAG	NP_001310218.1:p.Gln118=
NM_001323289.2:c.353_363delinsAGCTAATCAAG MANE Select	NP_001310218.1:p.Gln118=
NM_001037343.2:c.353_363delinsAGCTAATCAAG	NP_001032420.1:p.Gln118=
NM_003159.3:c.353_363delinsAGCTAATCAAG	NP_003150.1:p.Gln118=