Canonical Allele Identifier: CA2417974463
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604605_18604609delinsACAAC , CM000685.2:g.18604605_18604609delinsACAAC GRCh38
NC_000023.10:g.18622725_18622729delinsACAAC , CM000685.1:g.18622725_18622729delinsACAAC GRCh37
NC_000023.9:g.18532646_18532650delinsACAAC NCBI36
NG_008475.1:g.184001_184005delinsACAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1681_1685delinsACAAC MANE Select ENSP00000485244.1:p.Thr561=
ENST00000635828.1:c.1681_1685delinsACAAC ENSP00000490170.1:p.Thr561=
ENST00000674046.1:c.1681_1685delinsACAAC ENSP00000501174.1:p.Thr561=
ENST00000379989.6:c.1681_1685delinsACAAC ENSP00000369325.3:p.Thr561=
ENST00000379996.7:c.1681_1685delinsACAAC ENSP00000369332.3:p.Thr561=
ENST00000463994.4:c.1681_1685delinsACAAC ENSP00000485184.1:p.Thr561=
ENST00000623535.1:c.1681_1685delinsACAAC ENSP00000485244.1:p.Thr561=
NM_001037343.1:c.1681_1685delinsACAAC NP_001032420.1:p.Thr561=
NM_003159.2:c.1681_1685delinsACAAC NP_003150.1:p.Thr561=
XM_011545569.1:c.1630_1634delinsACAAC XP_011543871.1:p.Thr544=
XM_011545570.1:c.1549_1553delinsACAAC XP_011543872.1:p.Thr517=
XR_950484.1:n.1933_1937delinsACAAC
NM_001323289.1:c.1681_1685delinsACAAC NP_001310218.1:p.Thr561=
NM_001323289.2:c.1681_1685delinsACAAC MANE Select NP_001310218.1:p.Thr561=
NM_001037343.2:c.1681_1685delinsACAAC NP_001032420.1:p.Thr561=
NM_003159.3:c.1681_1685delinsACAAC NP_003150.1:p.Thr561=
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