Canonical Allele Identifier: CA2417975836

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18608890_18608891delinsTC , CM000685.2:g.18608890_18608891delinsTC	GRCh38
NC_000023.10:g.18627010_18627011delinsTC , CM000685.1:g.18627010_18627011delinsTC	GRCh37
NC_000023.9:g.18536931_18536932delinsTC	NCBI36
NG_008475.1:g.188286_188287delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2024_2025delinsTC MANE Select	ENSP00000485244.1:p.Phe675=
ENST00000635828.1:c.2024_2025delinsTC	ENSP00000490170.1:p.Phe675=
ENST00000674046.1:c.2024_2025delinsTC	ENSP00000501174.1:p.Phe675=
ENST00000379989.6:c.2024_2025delinsTC	ENSP00000369325.3:p.Phe675=
ENST00000379996.7:c.2024_2025delinsTC	ENSP00000369332.3:p.Phe675=
ENST00000463994.4:c.2024_2025delinsTC	ENSP00000485184.1:p.Phe675=
ENST00000623535.1:c.2024_2025delinsTC	ENSP00000485244.1:p.Phe675=
NM_001037343.1:c.2024_2025delinsTC	NP_001032420.1:p.Phe675=
NM_003159.2:c.2024_2025delinsTC	NP_003150.1:p.Phe675=
XM_011545569.1:c.1973_1974delinsTC	XP_011543871.1:p.Phe658=
XM_011545570.1:c.1892_1893delinsTC	XP_011543872.1:p.Phe631=
XR_950484.1:n.2276_2277delinsTC
NM_001323289.1:c.2024_2025delinsTC	NP_001310218.1:p.Phe675=
NM_001323289.2:c.2024_2025delinsTC MANE Select	NP_001310218.1:p.Phe675=
NM_001037343.2:c.2024_2025delinsTC	NP_001032420.1:p.Phe675=
NM_003159.3:c.2024_2025delinsTC	NP_003150.1:p.Phe675=