Canonical Allele Identifier: CA2417973924
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604168_18604170delinsCAG , CM000685.2:g.18604168_18604170delinsCAG GRCh38
NC_000023.10:g.18622288_18622290delinsCAG , CM000685.1:g.18622288_18622290delinsCAG GRCh37
NC_000023.9:g.18532209_18532211delinsCAG NCBI36
NG_008475.1:g.183564_183566delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1244_1246delinsCAG MANE Select ENSP00000485244.1:p.Thr415=
ENST00000635828.1:c.1244_1246delinsCAG ENSP00000490170.1:p.Thr415=
ENST00000637881.1:c.1244_1246delinsCAG ENSP00000489879.1:p.Thr415=
ENST00000674046.1:c.1244_1246delinsCAG ENSP00000501174.1:p.Thr415=
ENST00000379989.6:c.1244_1246delinsCAG ENSP00000369325.3:p.Thr415=
ENST00000379996.7:c.1244_1246delinsCAG ENSP00000369332.3:p.Thr415=
ENST00000463994.4:c.1244_1246delinsCAG ENSP00000485184.1:p.Thr415=
ENST00000623535.1:c.1244_1246delinsCAG ENSP00000485244.1:p.Thr415=
NM_001037343.1:c.1244_1246delinsCAG NP_001032420.1:p.Thr415=
NM_003159.2:c.1244_1246delinsCAG NP_003150.1:p.Thr415=
XM_011545569.1:c.1193_1195delinsCAG XP_011543871.1:p.Thr398=
XM_011545570.1:c.1112_1114delinsCAG XP_011543872.1:p.Thr371=
XR_950484.1:n.1496_1498delinsCAG
NM_001323289.1:c.1244_1246delinsCAG NP_001310218.1:p.Thr415=
NM_001323289.2:c.1244_1246delinsCAG MANE Select NP_001310218.1:p.Thr415=
NM_001037343.2:c.1244_1246delinsCAG NP_001032420.1:p.Thr415=
NM_003159.3:c.1244_1246delinsCAG NP_003150.1:p.Thr415=
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