Canonical Allele Identifier: CA2417982150

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628351_18628352delinsAT , CM000685.2:g.18628351_18628352delinsAT	GRCh38
NC_000023.10:g.18646471_18646472delinsAT , CM000685.1:g.18646471_18646472delinsAT	GRCh37
NC_000023.9:g.18556392_18556393delinsAT	NCBI36
NG_008475.1:g.207747_207748delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2497-20_2497-19delinsAT MANE Select	ENSP00000485244.1:n.2497-20_2497-19delinsAT
ENST00000674046.1:c.2620-20_2620-19delinsAT	ENSP00000501174.1:n.2620-20_2620-19delinsAT
ENST00000379989.6:c.2497-20_2497-19delinsAT	ENSP00000369325.3:n.2497-20_2497-19delinsAT
ENST00000379996.7:c.2497-20_2497-19delinsAT	ENSP00000369332.3:n.2497-20_2497-19delinsAT
ENST00000623535.1:c.2497-20_2497-19delinsAT	ENSP00000485244.1:n.2497-20_2497-19delinsAT
NM_001037343.1:c.2497-20_2497-19delinsAT	NP_001032420.1:n.2497-20_2497-19delinsAT
NM_003159.2:c.2497-20_2497-19delinsAT	NP_003150.1:n.2497-20_2497-19delinsAT
XM_011545569.1:c.2569-20_2569-19delinsAT	XP_011543871.1:n.2569-20_2569-19delinsAT
XM_011545570.1:c.2488-20_2488-19delinsAT	XP_011543872.1:n.2488-20_2488-19delinsAT
XR_950484.1:n.2872-20_2872-19delinsAT
NM_001323289.1:c.2497-20_2497-19delinsAT	NP_001310218.1:n.2497-20_2497-19delinsAT
NM_001323289.2:c.2497-20_2497-19delinsAT MANE Select	NP_001310218.1:n.2497-20_2497-19delinsAT
NM_001037343.2:c.2497-20_2497-19delinsAT	NP_001032420.1:n.2497-20_2497-19delinsAT
NM_003159.3:c.2497-20_2497-19delinsAT	NP_003150.1:n.2497-20_2497-19delinsAT