Canonical Allele Identifier: CA2417974375
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603994_18603995delinsAC , CM000685.2:g.18603994_18603995delinsAC GRCh38
NC_000023.10:g.18622114_18622115delinsAC , CM000685.1:g.18622114_18622115delinsAC GRCh37
NC_000023.9:g.18532035_18532036delinsAC NCBI36
NG_008475.1:g.183390_183391delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1070_1071delinsAC MANE Select ENSP00000485244.1:p.Asp357=
ENST00000635828.1:c.1070_1071delinsAC ENSP00000490170.1:p.Asp357=
ENST00000637881.1:c.1070_1071delinsAC ENSP00000489879.1:p.Asp357=
ENST00000674046.1:c.1070_1071delinsAC ENSP00000501174.1:p.Asp357=
ENST00000379989.6:c.1070_1071delinsAC ENSP00000369325.3:p.Asp357=
ENST00000379996.7:c.1070_1071delinsAC ENSP00000369332.3:p.Asp357=
ENST00000463994.4:c.1070_1071delinsAC ENSP00000485184.1:p.Asp357=
ENST00000623535.1:c.1070_1071delinsAC ENSP00000485244.1:p.Asp357=
NM_001037343.1:c.1070_1071delinsAC NP_001032420.1:p.Asp357=
NM_003159.2:c.1070_1071delinsAC NP_003150.1:p.Asp357=
XM_011545569.1:c.1019_1020delinsAC XP_011543871.1:p.Asp340=
XM_011545570.1:c.938_939delinsAC XP_011543872.1:p.Asp313=
XR_950484.1:n.1322_1323delinsAC
NM_001323289.1:c.1070_1071delinsAC NP_001310218.1:p.Asp357=
NM_001323289.2:c.1070_1071delinsAC MANE Select NP_001310218.1:p.Asp357=
NM_001037343.2:c.1070_1071delinsAC NP_001032420.1:p.Asp357=
NM_003159.3:c.1070_1071delinsAC NP_003150.1:p.Asp357=
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