Canonical Allele Identifier: CA2417974256
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603662_18603663delinsGC , CM000685.2:g.18603662_18603663delinsGC GRCh38
NC_000023.10:g.18621782_18621783delinsGC , CM000685.1:g.18621782_18621783delinsGC GRCh37
NC_000023.9:g.18531703_18531704delinsGC NCBI36
NG_008475.1:g.183058_183059delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.978-240_978-239delinsGC MANE Select ENSP00000485244.1:n.978-240_978-239delinsGC
ENST00000635828.1:c.978-240_978-239delinsGC ENSP00000490170.1:n.978-240_978-239delinsGC
ENST00000637881.1:c.978-240_978-239delinsGC ENSP00000489879.1:n.978-240_978-239delinsGC
ENST00000674046.1:c.978-240_978-239delinsGC ENSP00000501174.1:n.978-240_978-239delinsGC
ENST00000379989.6:c.978-240_978-239delinsGC ENSP00000369325.3:n.978-240_978-239delinsGC
ENST00000379996.7:c.978-240_978-239delinsGC ENSP00000369332.3:n.978-240_978-239delinsGC
ENST00000463994.4:c.978-240_978-239delinsGC ENSP00000485184.1:n.978-240_978-239delinsGC
ENST00000623535.1:c.978-240_978-239delinsGC ENSP00000485244.1:n.978-240_978-239delinsGC
NM_001037343.1:c.978-240_978-239delinsGC NP_001032420.1:n.978-240_978-239delinsGC
NM_003159.2:c.978-240_978-239delinsGC NP_003150.1:n.978-240_978-239delinsGC
XM_011545569.1:c.927-240_927-239delinsGC XP_011543871.1:n.927-240_927-239delinsGC
XM_011545570.1:c.846-240_846-239delinsGC XP_011543872.1:n.846-240_846-239delinsGC
XR_950484.1:n.1230-240_1230-239delinsGC
NM_001323289.1:c.978-240_978-239delinsGC NP_001310218.1:n.978-240_978-239delinsGC
NM_001323289.2:c.978-240_978-239delinsGC MANE Select NP_001310218.1:n.978-240_978-239delinsGC
NM_001037343.2:c.978-240_978-239delinsGC NP_001032420.1:n.978-240_978-239delinsGC
NM_003159.3:c.978-240_978-239delinsGC NP_003150.1:n.978-240_978-239delinsGC
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