Canonical Allele Identifier: CA2675303378

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371065-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371065G>T , CM000667.2:g.134371065G>T	GRCh38
NC_000005.9:g.133706756G>T , CM000667.1:g.133706756G>T	GRCh37
NC_000005.8:g.133734655G>T	NCBI36
NG_042179.2:g.4983C>A
NG_046936.1:g.4890G>T

Transcript Alleles

HGVS	Amino-acid Change
XM_011543437.1:c.-470C>A	XP_011541739.1:n.-470C>A
XM_011543438.1:c.-291C>A	XP_011541740.1:n.-291C>A
XM_011543439.1:c.-96C>A	XP_011541741.1:n.-96C>A
XM_011543441.1:c.-224+333C>A	XP_011541743.1:n.-224+333C>A
XM_011543444.1:c.-325C>A	XP_011541746.1:n.-325C>A
XM_011543445.1:c.-274C>A	XP_011541747.1:n.-274C>A
XM_011543447.1:c.-185C>A	XP_011541749.1:n.-185C>A
XM_017009544.2:c.-699C>A	XP_016865033.1:n.-699C>A
XM_017009545.2:c.-504C>A	XP_016865034.1:n.-504C>A
XM_024446086.1:c.-89C>A	XP_024301854.1:n.-89C>A
XM_024446093.1:c.227+333C>A	XP_024301861.1:n.227+333C>A
XM_024446096.1:c.-470C>A	XP_024301864.1:n.-470C>A
XM_024446097.1:c.-491C>A	XP_024301865.1:n.-491C>A
XM_024446099.1:c.-439+333C>A	XP_024301867.1:n.-439+333C>A
XM_024446100.1:c.-291C>A	XP_024301868.1:n.-291C>A
XM_024446101.1:c.-81C>A	XP_024301869.1:n.-81C>A
XM_024446103.1:c.-291C>A	XP_024301871.1:n.-291C>A