Canonical Allele Identifier: CA2675303415

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371112-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371114del , CM000667.2:g.134371114del	GRCh38
NC_000005.9:g.133706805del , CM000667.1:g.133706805del	GRCh37
NC_000005.8:g.133734704del	NCBI36
NG_042179.2:g.4935del
NG_046936.1:g.4939del

Transcript Alleles

HGVS	Amino-acid change
XM_011543441.1:c.-224+285del	XP_011541743.1:n.-224+285del
XM_017009544.2:c.-747del	XP_016865033.1:n.-747del
XM_017009545.2:c.-552del	XP_016865034.1:n.-552del
XM_024446086.1:c.-137del	XP_024301854.1:n.-137del
XM_024446093.1:c.227+285del	XP_024301861.1:n.227+285del
XM_024446096.1:c.-518del	XP_024301864.1:n.-518del
XM_024446097.1:c.-539del	XP_024301865.1:n.-539del
XM_024446099.1:c.-439+285del	XP_024301867.1:n.-439+285del
XM_024446100.1:c.-339del	XP_024301868.1:n.-339del
XM_024446101.1:c.-129del	XP_024301869.1:n.-129del
XM_024446103.1:c.-339del	XP_024301871.1:n.-339del