Canonical Allele Identifier: CA2519742943

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619879_18619881dup , CM000685.2:g.18619879_18619881dup	GRCh38
NC_000023.10:g.18637999_18638001dup , CM000685.1:g.18637999_18638001dup	GRCh37
NC_000023.9:g.18547920_18547922dup	NCBI36
NG_008475.1:g.199275_199277dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000623535.2:c.2289_2291dup MANE Select	ENSP00000485244.1:p.Glu763_Asn764insLys
ENST00000635828.1:c.2289_2291dup	ENSP00000490170.1:p.Glu763_Asn764insLys
ENST00000674046.1:c.2289_2291dup	ENSP00000501174.1:p.Glu763_Asn764insLys
ENST00000379989.6:c.2289_2291dup	ENSP00000369325.3:p.Glu763_Asn764insLys
ENST00000379996.7:c.2289_2291dup	ENSP00000369332.3:p.Glu763_Asn764insLys
ENST00000463994.4:c.2289_2291dup	ENSP00000485184.1:p.Glu763_Asn764insLys
ENST00000623535.1:c.2289_2291dup	ENSP00000485244.1:p.Glu763_Asn764insLys
NM_001037343.1:c.2289_2291dup	NP_001032420.1:p.Glu763_Asn764insLys
NM_003159.2:c.2289_2291dup	NP_003150.1:p.Glu763_Asn764insLys
XM_011545569.1:c.2238_2240dup	XP_011543871.1:p.Glu746_Asn747insLys
XM_011545570.1:c.2157_2159dup	XP_011543872.1:p.Glu719_Asn720insLys
XR_950484.1:n.2541_2543dup
NM_001323289.1:c.2289_2291dup	NP_001310218.1:p.Glu763_Asn764insLys
NM_001323289.2:c.2289_2291dup MANE Select	NP_001310218.1:p.Glu763_Asn764insLys
NM_001037343.2:c.2289_2291dup	NP_001032420.1:p.Glu763_Asn764insLys
NM_003159.3:c.2289_2291dup	NP_003150.1:p.Glu763_Asn764insLys