Canonical Allele Identifier: CA2516334521

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371048-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371048G>A , CM000667.2:g.134371048G>A	GRCh38
NC_000005.9:g.133706739G>A , CM000667.1:g.133706739G>A	GRCh37
NC_000005.8:g.133734638G>A	NCBI36
NG_042179.2:g.5000C>T
NG_046936.1:g.4873G>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011543437.1:c.-453C>T	XP_011541739.1:n.-453C>T
XM_011543438.1:c.-274C>T	XP_011541740.1:n.-274C>T
XM_011543439.1:c.-79C>T	XP_011541741.1:n.-79C>T
XM_011543441.1:c.-224+350C>T	XP_011541743.1:n.-224+350C>T
XM_011543444.1:c.-308C>T	XP_011541746.1:n.-308C>T
XM_011543445.1:c.-257C>T	XP_011541747.1:n.-257C>T
XM_011543447.1:c.-168C>T	XP_011541749.1:n.-168C>T
XM_017009544.2:c.-682C>T	XP_016865033.1:n.-682C>T
XM_017009545.2:c.-487C>T	XP_016865034.1:n.-487C>T
XM_024446086.1:c.-72C>T	XP_024301854.1:n.-72C>T
XM_024446093.1:c.227+350C>T	XP_024301861.1:n.227+350C>T
XM_024446096.1:c.-453C>T	XP_024301864.1:n.-453C>T
XM_024446097.1:c.-474C>T	XP_024301865.1:n.-474C>T
XM_024446099.1:c.-439+350C>T	XP_024301867.1:n.-439+350C>T
XM_024446100.1:c.-274C>T	XP_024301868.1:n.-274C>T
XM_024446101.1:c.-64C>T	XP_024301869.1:n.-64C>T
XM_024446103.1:c.-274C>T	XP_024301871.1:n.-274C>T