Canonical Allele Identifier: CA2417982097

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18628211_18628212delinsGA , CM000685.2:g.18628211_18628212delinsGA	GRCh38
NC_000023.10:g.18646331_18646332delinsGA , CM000685.1:g.18646331_18646332delinsGA	GRCh37
NC_000023.9:g.18556252_18556253delinsGA	NCBI36
NG_008475.1:g.207607_207608delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2497-160_2497-159delinsGA MANE Select	ENSP00000485244.1:n.2497-160_2497-159delinsGA
ENST00000674046.1:c.2620-160_2620-159delinsGA	ENSP00000501174.1:n.2620-160_2620-159delinsGA
ENST00000379989.6:c.2497-160_2497-159delinsGA	ENSP00000369325.3:n.2497-160_2497-159delinsGA
ENST00000379996.7:c.2497-160_2497-159delinsGA	ENSP00000369332.3:n.2497-160_2497-159delinsGA
ENST00000623535.1:c.2497-160_2497-159delinsGA	ENSP00000485244.1:n.2497-160_2497-159delinsGA
NM_001037343.1:c.2497-160_2497-159delinsGA	NP_001032420.1:n.2497-160_2497-159delinsGA
NM_003159.2:c.2497-160_2497-159delinsGA	NP_003150.1:n.2497-160_2497-159delinsGA
XM_011545569.1:c.2569-160_2569-159delinsGA	XP_011543871.1:n.2569-160_2569-159delinsGA
XM_011545570.1:c.2488-160_2488-159delinsGA	XP_011543872.1:n.2488-160_2488-159delinsGA
XR_950484.1:n.2872-160_2872-159delinsGA
NM_001323289.1:c.2497-160_2497-159delinsGA	NP_001310218.1:n.2497-160_2497-159delinsGA
NM_001323289.2:c.2497-160_2497-159delinsGA MANE Select	NP_001310218.1:n.2497-160_2497-159delinsGA
NM_001037343.2:c.2497-160_2497-159delinsGA	NP_001032420.1:n.2497-160_2497-159delinsGA
NM_003159.3:c.2497-160_2497-159delinsGA	NP_003150.1:n.2497-160_2497-159delinsGA