Canonical Allele Identifier: CA2768485753

Gene: CDKL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371141C>A , CM000667.2:g.134371141C>A	GRCh38
NC_000005.9:g.133706832C>A , CM000667.1:g.133706832C>A	GRCh37
NC_000005.8:g.133734731C>A	NCBI36
NG_042179.2:g.4907G>T
NG_046936.1:g.4966C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+257G>T	XP_011541743.1:n.-224+257G>T
XM_017009544.2:c.-775G>T	XP_016865033.1:n.-775G>T
XM_017009545.2:c.-580G>T	XP_016865034.1:n.-580G>T
XM_024446086.1:c.-165G>T	XP_024301854.1:n.-165G>T
XM_024446093.1:c.227+257G>T	XP_024301861.1:n.227+257G>T
XM_024446096.1:c.-546G>T	XP_024301864.1:n.-546G>T
XM_024446097.1:c.-567G>T	XP_024301865.1:n.-567G>T
XM_024446099.1:c.-439+257G>T	XP_024301867.1:n.-439+257G>T
XM_024446100.1:c.-367G>T	XP_024301868.1:n.-367G>T
XM_024446101.1:c.-157G>T	XP_024301869.1:n.-157G>T
XM_024446103.1:c.-367G>T	XP_024301871.1:n.-367G>T