Canonical Allele Identifier: CA2693224073
Gene: CDKL5 HGNC NCBI

Linked Data

gnomAD v4: X-18628318-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18628318C>A , CM000685.2:g.18628318C>A GRCh38
NC_000023.10:g.18646438C>A , CM000685.1:g.18646438C>A GRCh37
NC_000023.9:g.18556359C>A NCBI36
NG_008475.1:g.207714C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.2497-53C>A MANE Select ENSP00000485244.1:n.2497-53C>A
ENST00000674046.1:c.2620-53C>A ENSP00000501174.1:n.2620-53C>A
ENST00000379989.6:c.2497-53C>A ENSP00000369325.3:n.2497-53C>A
ENST00000379996.7:c.2497-53C>A ENSP00000369332.3:n.2497-53C>A
ENST00000623535.1:c.2497-53C>A ENSP00000485244.1:n.2497-53C>A
NM_001037343.1:c.2497-53C>A NP_001032420.1:n.2497-53C>A
NM_003159.2:c.2497-53C>A NP_003150.1:n.2497-53C>A
XM_011545569.1:c.2569-53C>A XP_011543871.1:n.2569-53C>A
XM_011545570.1:c.2488-53C>A XP_011543872.1:n.2488-53C>A
XR_950484.1:n.2872-53C>A
NM_001323289.1:c.2497-53C>A NP_001310218.1:n.2497-53C>A
NM_001323289.2:c.2497-53C>A MANE Select NP_001310218.1:n.2497-53C>A
NM_001037343.2:c.2497-53C>A NP_001032420.1:n.2497-53C>A
NM_003159.3:c.2497-53C>A NP_003150.1:n.2497-53C>A
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