Canonical Allele Identifier: CA2417972511

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18598307_18598311delinsTTAGA , CM000685.2:g.18598307_18598311delinsTTAGA	GRCh38
NC_000023.10:g.18616427_18616431delinsTTAGA , CM000685.1:g.18616427_18616431delinsTTAGA	GRCh37
NC_000023.9:g.18526348_18526352delinsTTAGA	NCBI36
NG_008475.1:g.177703_177707delinsTTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.826-155_826-151delinsTTAGA MANE Select	ENSP00000485244.1:n.826-155_826-151delinsTTAGA
ENST00000635828.1:c.826-155_826-151delinsTTAGA	ENSP00000490170.1:n.826-155_826-151delinsTTAGA
ENST00000637881.1:c.826-155_826-151delinsTTAGA	ENSP00000489879.1:n.826-155_826-151delinsTTAGA
ENST00000674046.1:c.826-155_826-151delinsTTAGA	ENSP00000501174.1:n.826-155_826-151delinsTTAGA
ENST00000379989.6:c.826-155_826-151delinsTTAGA	ENSP00000369325.3:n.826-155_826-151delinsTTAGA
ENST00000379996.7:c.826-155_826-151delinsTTAGA	ENSP00000369332.3:n.826-155_826-151delinsTTAGA
ENST00000463994.4:c.826-155_826-151delinsTTAGA	ENSP00000485184.1:n.826-155_826-151delinsTTAGA
ENST00000623535.1:c.826-155_826-151delinsTTAGA	ENSP00000485244.1:n.826-155_826-151delinsTTAGA
NM_001037343.1:c.826-155_826-151delinsTTAGA	NP_001032420.1:n.826-155_826-151delinsTTAGA
NM_003159.2:c.826-155_826-151delinsTTAGA	NP_003150.1:n.826-155_826-151delinsTTAGA
XM_011545569.1:c.826-155_826-151delinsTTAGA	XP_011543871.1:n.826-155_826-151delinsTTAGA
XM_011545570.1:c.694-155_694-151delinsTTAGA	XP_011543872.1:n.694-155_694-151delinsTTAGA
XR_950484.1:n.1078-155_1078-151delinsTTAGA
NM_001323289.1:c.826-155_826-151delinsTTAGA	NP_001310218.1:n.826-155_826-151delinsTTAGA
NM_001323289.2:c.826-155_826-151delinsTTAGA MANE Select	NP_001310218.1:n.826-155_826-151delinsTTAGA
NM_001037343.2:c.826-155_826-151delinsTTAGA	NP_001032420.1:n.826-155_826-151delinsTTAGA
NM_003159.3:c.826-155_826-151delinsTTAGA	NP_003150.1:n.826-155_826-151delinsTTAGA