Canonical Allele Identifier: CA2417979434

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18619951_18619956delinsGAAGAA , CM000685.2:g.18619951_18619956delinsGAAGAA	GRCh38
NC_000023.10:g.18638071_18638076delinsGAAGAA , CM000685.1:g.18638071_18638076delinsGAAGAA	GRCh37
NC_000023.9:g.18547992_18547997delinsGAAGAA	NCBI36
NG_008475.1:g.199347_199352delinsGAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.2361_2366delinsGAAGAA MANE Select	ENSP00000485244.1:p.Lys787=
ENST00000635828.1:c.2361_2366delinsGAAGAA	ENSP00000490170.1:p.Lys787=
ENST00000674046.1:c.2361_2366delinsGAAGAA	ENSP00000501174.1:p.Lys787=
ENST00000379989.6:c.2361_2366delinsGAAGAA	ENSP00000369325.3:p.Lys787=
ENST00000379996.7:c.2361_2366delinsGAAGAA	ENSP00000369332.3:p.Lys787=
ENST00000623535.1:c.2361_2366delinsGAAGAA	ENSP00000485244.1:p.Lys787=
NM_001037343.1:c.2361_2366delinsGAAGAA	NP_001032420.1:p.Lys787=
NM_003159.2:c.2361_2366delinsGAAGAA	NP_003150.1:p.Lys787=
XM_011545569.1:c.2310_2315delinsGAAGAA	XP_011543871.1:p.Lys770=
XM_011545570.1:c.2229_2234delinsGAAGAA	XP_011543872.1:p.Lys743=
XR_950484.1:n.2613_2618delinsGAAGAA
NM_001323289.1:c.2361_2366delinsGAAGAA	NP_001310218.1:p.Lys787=
NM_001323289.2:c.2361_2366delinsGAAGAA MANE Select	NP_001310218.1:p.Lys787=
NM_001037343.2:c.2361_2366delinsGAAGAA	NP_001032420.1:p.Lys787=
NM_003159.3:c.2361_2366delinsGAAGAA	NP_003150.1:p.Lys787=