Canonical Allele Identifier: CA2530584880

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18579969_18579980del , CM000685.2:g.18579969_18579980del	GRCh38
NC_000023.10:g.18598089_18598100del , CM000685.1:g.18598089_18598100del	GRCh37
NC_000023.9:g.18508010_18508021del	NCBI36
NG_008475.1:g.159365_159376del

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.403+1_403+12del MANE Select	ENSP00000485244.1:n.403+1_403+12del
ENST00000635828.1:c.403+1_403+12del	ENSP00000490170.1:n.403+1_403+12del
ENST00000637881.1:c.403+1_403+12del	ENSP00000489879.1:n.403+1_403+12del
ENST00000674046.1:c.403+1_403+12del	ENSP00000501174.1:n.403+1_403+12del
ENST00000379989.6:c.403+1_403+12del	ENSP00000369325.3:n.403+1_403+12del
ENST00000379996.7:c.403+1_403+12del	ENSP00000369332.3:n.403+1_403+12del
ENST00000463994.4:c.403+1_403+12del	ENSP00000485184.1:n.403+1_403+12del
ENST00000623535.1:c.403+1_403+12del	ENSP00000485244.1:n.403+1_403+12del
NM_001037343.1:c.403+1_403+12del	NP_001032420.1:n.403+1_403+12del
NM_003159.2:c.403+1_403+12del	NP_003150.1:n.403+1_403+12del
XM_011545569.1:c.403+1_403+12del	XP_011543871.1:n.403+1_403+12del
XM_011545570.1:c.271+1_271+12del	XP_011543872.1:n.271+1_271+12del
XR_950484.1:n.655+1_655+12del
NM_001323289.1:c.403+1_403+12del	NP_001310218.1:n.403+1_403+12del
NM_001323289.2:c.403+1_403+12del MANE Select	NP_001310218.1:n.403+1_403+12del
NM_001037343.2:c.403+1_403+12del	NP_001032420.1:n.403+1_403+12del
NM_003159.3:c.403+1_403+12del	NP_003150.1:n.403+1_403+12del