Canonical Allele Identifier: CA2417982155

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628358_18628359delinsTC , CM000685.2:g.18628358_18628359delinsTC	GRCh38
NC_000023.10:g.18646478_18646479delinsTC , CM000685.1:g.18646478_18646479delinsTC	GRCh37
NC_000023.9:g.18556399_18556400delinsTC	NCBI36
NG_008475.1:g.207754_207755delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2497-13_2497-12delinsTC MANE Select	ENSP00000485244.1:n.2497-13_2497-12delinsTC
ENST00000674046.1:c.2620-13_2620-12delinsTC	ENSP00000501174.1:n.2620-13_2620-12delinsTC
ENST00000379989.6:c.2497-13_2497-12delinsTC	ENSP00000369325.3:n.2497-13_2497-12delinsTC
ENST00000379996.7:c.2497-13_2497-12delinsTC	ENSP00000369332.3:n.2497-13_2497-12delinsTC
ENST00000623535.1:c.2497-13_2497-12delinsTC	ENSP00000485244.1:n.2497-13_2497-12delinsTC
NM_001037343.1:c.2497-13_2497-12delinsTC	NP_001032420.1:n.2497-13_2497-12delinsTC
NM_003159.2:c.2497-13_2497-12delinsTC	NP_003150.1:n.2497-13_2497-12delinsTC
XM_011545569.1:c.2569-13_2569-12delinsTC	XP_011543871.1:n.2569-13_2569-12delinsTC
XM_011545570.1:c.2488-13_2488-12delinsTC	XP_011543872.1:n.2488-13_2488-12delinsTC
XR_950484.1:n.2872-13_2872-12delinsTC
NM_001323289.1:c.2497-13_2497-12delinsTC	NP_001310218.1:n.2497-13_2497-12delinsTC
NM_001323289.2:c.2497-13_2497-12delinsTC MANE Select	NP_001310218.1:n.2497-13_2497-12delinsTC
NM_001037343.2:c.2497-13_2497-12delinsTC	NP_001032420.1:n.2497-13_2497-12delinsTC
NM_003159.3:c.2497-13_2497-12delinsTC	NP_003150.1:n.2497-13_2497-12delinsTC