Canonical Allele Identifier: CA2417982238

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628633_18628635delinsCCA , CM000685.2:g.18628633_18628635delinsCCA	GRCh38
NC_000023.10:g.18646753_18646755delinsCCA , CM000685.1:g.18646753_18646755delinsCCA	GRCh37
NC_000023.9:g.18556674_18556676delinsCCA	NCBI36
NG_008475.1:g.208029_208031delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2759_2761delinsCCA MANE Select	ENSP00000485244.1:p.Ala920=
ENST00000674046.1:c.2882_2884delinsCCA	ENSP00000501174.1:p.Ala961=
ENST00000379989.6:c.2713+46_2713+48delinsCCA	ENSP00000369325.3:n.2713+46_2713+48delinsCCA
ENST00000379996.7:c.2713+46_2713+48delinsCCA	ENSP00000369332.3:n.2713+46_2713+48delinsCCA
ENST00000623535.1:c.2759_2761delinsCCA	ENSP00000485244.1:p.Ala920=
NM_001037343.1:c.2713+46_2713+48delinsCCA	NP_001032420.1:n.2713+46_2713+48delinsCCA
NM_003159.2:c.2713+46_2713+48delinsCCA	NP_003150.1:n.2713+46_2713+48delinsCCA
XM_011545569.1:c.2785+46_2785+48delinsCCA	XP_011543871.1:n.2785+46_2785+48delinsCCA
XM_011545570.1:c.2704+46_2704+48delinsCCA	XP_011543872.1:n.2704+46_2704+48delinsCCA
XR_950484.1:n.3088+46_3088+48delinsCCA
NM_001323289.1:c.2759_2761delinsCCA	NP_001310218.1:p.Ala920=
NM_001323289.2:c.2759_2761delinsCCA MANE Select	NP_001310218.1:p.Ala920=
NM_001037343.2:c.2713+46_2713+48delinsCCA	NP_001032420.1:n.2713+46_2713+48delinsCCA
NM_003159.3:c.2713+46_2713+48delinsCCA	NP_003150.1:n.2713+46_2713+48delinsCCA