Canonical Allele Identifier: CA2675303424

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371118-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371121dup , CM000667.2:g.134371121dup	GRCh38
NC_000005.9:g.133706812dup , CM000667.1:g.133706812dup	GRCh37
NC_000005.8:g.133734711dup	NCBI36
NG_042179.2:g.4929dup
NG_046936.1:g.4946dup

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+279dup	XP_011541743.1:n.-224+279dup
XM_017009544.2:c.-753dup	XP_016865033.1:n.-753dup
XM_017009545.2:c.-558dup	XP_016865034.1:n.-558dup
XM_024446086.1:c.-143dup	XP_024301854.1:n.-143dup
XM_024446093.1:c.227+279dup	XP_024301861.1:n.227+279dup
XM_024446096.1:c.-524dup	XP_024301864.1:n.-524dup
XM_024446097.1:c.-545dup	XP_024301865.1:n.-545dup
XM_024446099.1:c.-439+279dup	XP_024301867.1:n.-439+279dup
XM_024446100.1:c.-345dup	XP_024301868.1:n.-345dup
XM_024446101.1:c.-135dup	XP_024301869.1:n.-135dup
XM_024446103.1:c.-345dup	XP_024301871.1:n.-345dup