Canonical Allele Identifier: CA2417979456
Gene: CDKL5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18619996_18619999delinsTAAC , CM000685.2:g.18619996_18619999delinsTAAC GRCh38
NC_000023.10:g.18638116_18638119delinsTAAC , CM000685.1:g.18638116_18638119delinsTAAC GRCh37
NC_000023.9:g.18548037_18548040delinsTAAC NCBI36
NG_008475.1:g.199392_199395delinsTAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.2376+30_2376+33delinsTAAC MANE Select ENSP00000485244.1:n.2376+30_2376+33delins...
ENST00000635828.1:c.2376+30_2376+33delinsTAAC ENSP00000490170.1:n.2376+30_2376+33delins...
ENST00000674046.1:c.2376+30_2376+33delinsTAAC ENSP00000501174.1:n.2376+30_2376+33delins...
ENST00000379989.6:c.2376+30_2376+33delinsTAAC ENSP00000369325.3:n.2376+30_2376+33delins...
ENST00000379996.7:c.2376+30_2376+33delinsTAAC ENSP00000369332.3:n.2376+30_2376+33delins...
ENST00000623535.1:c.2376+30_2376+33delinsTAAC ENSP00000485244.1:n.2376+30_2376+33delins...
NM_001037343.1:c.2376+30_2376+33delinsTAAC NP_001032420.1:n.2376+30_2376+33delinsTAA...
NM_003159.2:c.2376+30_2376+33delinsTAAC NP_003150.1:n.2376+30_2376+33delinsTAAC
XM_011545569.1:c.2325+30_2325+33delinsTAAC XP_011543871.1:n.2325+30_2325+33delinsTAA...
XM_011545570.1:c.2244+30_2244+33delinsTAAC XP_011543872.1:n.2244+30_2244+33delinsTAA...
XR_950484.1:n.2628+30_2628+33delinsTAAC
NM_001323289.1:c.2376+30_2376+33delinsTAAC NP_001310218.1:n.2376+30_2376+33delinsTAA...
NM_001323289.2:c.2376+30_2376+33delinsTAAC MANE Select NP_001310218.1:n.2376+30_2376+33delinsTAA...
NM_001037343.2:c.2376+30_2376+33delinsTAAC NP_001032420.1:n.2376+30_2376+33delinsTAA...
NM_003159.3:c.2376+30_2376+33delinsTAAC NP_003150.1:n.2376+30_2376+33delinsTAAC