Canonical Allele Identifier: CA2675303436

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371132-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371132A>C , CM000667.2:g.134371132A>C	GRCh38
NC_000005.9:g.133706823A>C , CM000667.1:g.133706823A>C	GRCh37
NC_000005.8:g.133734722A>C	NCBI36
NG_042179.2:g.4916T>G
NG_046936.1:g.4957A>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+266T>G	XP_011541743.1:n.-224+266T>G
XM_017009544.2:c.-766T>G	XP_016865033.1:n.-766T>G
XM_017009545.2:c.-571T>G	XP_016865034.1:n.-571T>G
XM_024446086.1:c.-156T>G	XP_024301854.1:n.-156T>G
XM_024446093.1:c.227+266T>G	XP_024301861.1:n.227+266T>G
XM_024446096.1:c.-537T>G	XP_024301864.1:n.-537T>G
XM_024446097.1:c.-558T>G	XP_024301865.1:n.-558T>G
XM_024446099.1:c.-439+266T>G	XP_024301867.1:n.-439+266T>G
XM_024446100.1:c.-358T>G	XP_024301868.1:n.-358T>G
XM_024446101.1:c.-148T>G	XP_024301869.1:n.-148T>G
XM_024446103.1:c.-358T>G	XP_024301871.1:n.-358T>G