Canonical Allele Identifier: CA2768485749

Gene: CDKL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371109A>G , CM000667.2:g.134371109A>G	GRCh38
NC_000005.9:g.133706800A>G , CM000667.1:g.133706800A>G	GRCh37
NC_000005.8:g.133734699A>G	NCBI36
NG_042179.2:g.4939T>C
NG_046936.1:g.4934A>G

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+289T>C	XP_011541743.1:n.-224+289T>C
XM_017009544.2:c.-743T>C	XP_016865033.1:n.-743T>C
XM_017009545.2:c.-548T>C	XP_016865034.1:n.-548T>C
XM_024446086.1:c.-133T>C	XP_024301854.1:n.-133T>C
XM_024446093.1:c.227+289T>C	XP_024301861.1:n.227+289T>C
XM_024446096.1:c.-514T>C	XP_024301864.1:n.-514T>C
XM_024446097.1:c.-535T>C	XP_024301865.1:n.-535T>C
XM_024446099.1:c.-439+289T>C	XP_024301867.1:n.-439+289T>C
XM_024446100.1:c.-335T>C	XP_024301868.1:n.-335T>C
XM_024446101.1:c.-125T>C	XP_024301869.1:n.-125T>C
XM_024446103.1:c.-335T>C	XP_024301871.1:n.-335T>C