Canonical Allele Identifier: CA804153610

Gene: CDKL3

Linked Data

• dbSNP Id: rs1418913544
• gnomAD v3: 5-134371131-GA-G
• gnomAD v4: 5-134371131-GA-G
• MyVariant Identifiers: chr5:g.133706823del (hg19) ; chr5:g.134371132del (hg38)

Genomic Alleles

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

Transcript Alleles

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