Canonical Allele Identifier: CA2417974399

Gene: CDKL5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18604033_18604034delinsAC , CM000685.2:g.18604033_18604034delinsAC	GRCh38
NC_000023.10:g.18622153_18622154delinsAC , CM000685.1:g.18622153_18622154delinsAC	GRCh37
NC_000023.9:g.18532074_18532075delinsAC	NCBI36
NG_008475.1:g.183429_183430delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623535.2:c.1109_1110delinsAC MANE Select	ENSP00000485244.1:p.Asn370=
ENST00000635828.1:c.1109_1110delinsAC	ENSP00000490170.1:p.Asn370=
ENST00000637881.1:c.1109_1110delinsAC	ENSP00000489879.1:p.Asn370=
ENST00000674046.1:c.1109_1110delinsAC	ENSP00000501174.1:p.Asn370=
ENST00000379989.6:c.1109_1110delinsAC	ENSP00000369325.3:p.Asn370=
ENST00000379996.7:c.1109_1110delinsAC	ENSP00000369332.3:p.Asn370=
ENST00000463994.4:c.1109_1110delinsAC	ENSP00000485184.1:p.Asn370=
ENST00000623535.1:c.1109_1110delinsAC	ENSP00000485244.1:p.Asn370=
NM_001037343.1:c.1109_1110delinsAC	NP_001032420.1:p.Asn370=
NM_003159.2:c.1109_1110delinsAC	NP_003150.1:p.Asn370=
XM_011545569.1:c.1058_1059delinsAC	XP_011543871.1:p.Asn353=
XM_011545570.1:c.977_978delinsAC	XP_011543872.1:p.Asn326=
XR_950484.1:n.1361_1362delinsAC
NM_001323289.1:c.1109_1110delinsAC	NP_001310218.1:p.Asn370=
NM_001323289.2:c.1109_1110delinsAC MANE Select	NP_001310218.1:p.Asn370=
NM_001037343.2:c.1109_1110delinsAC	NP_001032420.1:p.Asn370=
NM_003159.3:c.1109_1110delinsAC	NP_003150.1:p.Asn370=