Canonical Allele Identifier: CA2768485751
Gene: CDKL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.134371122del , CM000667.2:g.134371122del GRCh38
NC_000005.9:g.133706813del , CM000667.1:g.133706813del GRCh37
NC_000005.8:g.133734712del NCBI36
NG_042179.2:g.4926del
NG_046936.1:g.4947del

Transcript Alleles

HGVS Amino-acid Change
XM_011543441.1:c.-224+276del XP_011541743.1:n.-224+276del
XM_017009544.2:c.-756del XP_016865033.1:n.-756del
XM_017009545.2:c.-561del XP_016865034.1:n.-561del
XM_024446086.1:c.-146del XP_024301854.1:n.-146del
XM_024446093.1:c.227+276del XP_024301861.1:n.227+276del
XM_024446096.1:c.-527del XP_024301864.1:n.-527del
XM_024446097.1:c.-548del XP_024301865.1:n.-548del
XM_024446099.1:c.-439+276del XP_024301867.1:n.-439+276del
XM_024446100.1:c.-348del XP_024301868.1:n.-348del
XM_024446101.1:c.-138del XP_024301869.1:n.-138del
XM_024446103.1:c.-348del XP_024301871.1:n.-348del