Canonical Allele Identifier: CA2838032891

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18603961_18603962delinsCAGATCTAA , CM000685.2:g.18603961_18603962delinsCAGATCTAA	GRCh38
NC_000023.10:g.18622081_18622082delinsCAGATCTAA , CM000685.1:g.18622081_18622082delinsCAGATCTAA	GRCh37
NC_000023.9:g.18532002_18532003delinsCAGATCTAA	NCBI36
NG_008475.1:g.183357_183358delinsCAGATCTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1037_1038delinsCAGATCTAA MANE Select	ENSP00000485244.1:p.Ile346ThrfsTer14
ENST00000635828.1:c.1037_1038delinsCAGATCTAA	ENSP00000490170.1:p.Ile346ThrfsTer14
ENST00000637881.1:c.1037_1038delinsCAGATCTAA	ENSP00000489879.1:p.Ile346ThrfsTer14
ENST00000674046.1:c.1037_1038delinsCAGATCTAA	ENSP00000501174.1:p.Ile346ThrfsTer14
ENST00000379989.6:c.1037_1038delinsCAGATCTAA	ENSP00000369325.3:p.Ile346ThrfsTer14
ENST00000379996.7:c.1037_1038delinsCAGATCTAA	ENSP00000369332.3:p.Ile346ThrfsTer14
ENST00000463994.4:c.1037_1038delinsCAGATCTAA	ENSP00000485184.1:p.Ile346ThrfsTer14
ENST00000623535.1:c.1037_1038delinsCAGATCTAA	ENSP00000485244.1:p.Ile346ThrfsTer14
NM_001037343.1:c.1037_1038delinsCAGATCTAA	NP_001032420.1:p.Ile346ThrfsTer14
NM_003159.2:c.1037_1038delinsCAGATCTAA	NP_003150.1:p.Ile346ThrfsTer14
XM_011545569.1:c.986_987delinsCAGATCTAA	XP_011543871.1:p.Ile329ThrfsTer14
XM_011545570.1:c.905_906delinsCAGATCTAA	XP_011543872.1:p.Ile302ThrfsTer14
XR_950484.1:n.1289_1290delinsCAGATCTAA
NM_001323289.1:c.1037_1038delinsCAGATCTAA	NP_001310218.1:p.Ile346ThrfsTer14
NM_001323289.2:c.1037_1038delinsCAGATCTAA MANE Select	NP_001310218.1:p.Ile346ThrfsTer14
NM_001037343.2:c.1037_1038delinsCAGATCTAA	NP_001032420.1:p.Ile346ThrfsTer14
NM_003159.3:c.1037_1038delinsCAGATCTAA	NP_003150.1:p.Ile346ThrfsTer14