Canonical Allele Identifier: CA2417974488

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604677_18604679delinsCTG , CM000685.2:g.18604677_18604679delinsCTG	GRCh38
NC_000023.10:g.18622797_18622799delinsCTG , CM000685.1:g.18622797_18622799delinsCTG	GRCh37
NC_000023.9:g.18532718_18532720delinsCTG	NCBI36
NG_008475.1:g.184073_184075delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1753_1755delinsCTG MANE Select	ENSP00000485244.1:p.Leu585=
ENST00000635828.1:c.1753_1755delinsCTG	ENSP00000490170.1:p.Leu585=
ENST00000674046.1:c.1753_1755delinsCTG	ENSP00000501174.1:p.Leu585=
ENST00000379989.6:c.1753_1755delinsCTG	ENSP00000369325.3:p.Leu585=
ENST00000379996.7:c.1753_1755delinsCTG	ENSP00000369332.3:p.Leu585=
ENST00000463994.4:c.1753_1755delinsCTG	ENSP00000485184.1:p.Leu585=
ENST00000623535.1:c.1753_1755delinsCTG	ENSP00000485244.1:p.Leu585=
NM_001037343.1:c.1753_1755delinsCTG	NP_001032420.1:p.Leu585=
NM_003159.2:c.1753_1755delinsCTG	NP_003150.1:p.Leu585=
XM_011545569.1:c.1702_1704delinsCTG	XP_011543871.1:p.Leu568=
XM_011545570.1:c.1621_1623delinsCTG	XP_011543872.1:p.Leu541=
XR_950484.1:n.2005_2007delinsCTG
NM_001323289.1:c.1753_1755delinsCTG	NP_001310218.1:p.Leu585=
NM_001323289.2:c.1753_1755delinsCTG MANE Select	NP_001310218.1:p.Leu585=
NM_001037343.2:c.1753_1755delinsCTG	NP_001032420.1:p.Leu585=
NM_003159.3:c.1753_1755delinsCTG	NP_003150.1:p.Leu585=