Canonical Allele Identifier: CA2579563124

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628360_18628371del , CM000685.2:g.18628360_18628371del	GRCh38
NC_000023.10:g.18646480_18646491del , CM000685.1:g.18646480_18646491del	GRCh37
NC_000023.9:g.18556401_18556412del	NCBI36
NG_008475.1:g.207756_207767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2497-11_2497del
ENST00000674046.1:c.2620-11_2620del
ENST00000379989.6:c.2497-11_2497del
ENST00000379996.7:c.2497-11_2497del
ENST00000623535.1:c.2497-11_2497del
NM_001037343.1:c.2497-11_2497del
NM_003159.2:c.2497-11_2497del
XM_011545569.1:c.2569-11_2569del
XM_011545570.1:c.2488-11_2488del
XR_950484.1:n.2872-11_2872del
NM_001323289.1:c.2497-11_2497del
NM_001323289.2:c.2497-11_2497del
NM_001037343.2:c.2497-11_2497del
NM_003159.3:c.2497-11_2497del