Canonical Allele Identifier: CA1081786650

Gene: CDKL3

Linked Data

• dbSNP Id: rs1758355326
• gnomAD v3: 5-134371102-ATTG-A
• gnomAD v4: 5-134371102-ATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371106_134371108del , CM000667.2:g.134371106_134371108del	GRCh38
NC_000005.9:g.133706797_133706799del , CM000667.1:g.133706797_133706799del	GRCh37
NC_000005.8:g.133734696_133734698del	NCBI36
NG_042179.2:g.4943_4945del
NG_046936.1:g.4931_4933del

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+293_-224+295del	XP_011541743.1:n.-224+293_-224+295del
XM_017009544.2:c.-739_-737del	XP_016865033.1:n.-739_-737del
XM_017009545.2:c.-544_-542del	XP_016865034.1:n.-544_-542del
XM_024446086.1:c.-129_-127del	XP_024301854.1:n.-129_-127del
XM_024446093.1:c.227+293_227+295del	XP_024301861.1:n.227+293_227+295del
XM_024446096.1:c.-510_-508del	XP_024301864.1:n.-510_-508del
XM_024446097.1:c.-531_-529del	XP_024301865.1:n.-531_-529del
XM_024446099.1:c.-439+293_-439+295del	XP_024301867.1:n.-439+293_-439+295del
XM_024446100.1:c.-331_-329del	XP_024301868.1:n.-331_-329del
XM_024446101.1:c.-121_-119del	XP_024301869.1:n.-121_-119del
XM_024446103.1:c.-331_-329del	XP_024301871.1:n.-331_-329del