Canonical Allele Identifier: CA2417982215

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628543_18628553delinsGGCAGGAACCC , CM000685.2:g.18628543_18628553delinsGGCAGGAACCC	GRCh38
NC_000023.10:g.18646663_18646673delinsGGCAGGAACCC , CM000685.1:g.18646663_18646673delinsGGCAGGAACCC	GRCh37
NC_000023.9:g.18556584_18556594delinsGGCAGGAACCC	NCBI36
NG_008475.1:g.207939_207949delinsGGCAGGAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2669_2679delinsGGCAGGAACCC MANE Select	ENSP00000485244.1:p.Arg890=
ENST00000674046.1:c.2792_2802delinsGGCAGGAACCC	ENSP00000501174.1:p.Arg931=
ENST00000379989.6:c.2669_2679delinsGGCAGGAACCC	ENSP00000369325.3:p.Arg890=
ENST00000379996.7:c.2669_2679delinsGGCAGGAACCC	ENSP00000369332.3:p.Arg890=
ENST00000623535.1:c.2669_2679delinsGGCAGGAACCC	ENSP00000485244.1:p.Arg890=
NM_001037343.1:c.2669_2679delinsGGCAGGAACCC	NP_001032420.1:p.Arg890=
NM_003159.2:c.2669_2679delinsGGCAGGAACCC	NP_003150.1:p.Arg890=
XM_011545569.1:c.2741_2751delinsGGCAGGAACCC	XP_011543871.1:p.Arg914=
XM_011545570.1:c.2660_2670delinsGGCAGGAACCC	XP_011543872.1:p.Arg887=
XR_950484.1:n.3044_3054delinsGGCAGGAACCC
NM_001323289.1:c.2669_2679delinsGGCAGGAACCC	NP_001310218.1:p.Arg890=
NM_001323289.2:c.2669_2679delinsGGCAGGAACCC MANE Select	NP_001310218.1:p.Arg890=
NM_001037343.2:c.2669_2679delinsGGCAGGAACCC	NP_001032420.1:p.Arg890=
NM_003159.3:c.2669_2679delinsGGCAGGAACCC	NP_003150.1:p.Arg890=