Canonical Allele Identifier: CA1584036596

Gene: CDKL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371078_134371081delinsTCTC , CM000667.2:g.134371078_134371081delinsTCTC	GRCh38
NC_000005.9:g.133706769_133706772delinsTCTC , CM000667.1:g.133706769_133706772delinsTCTC	GRCh37
NC_000005.8:g.133734668_133734671delinsTCTC	NCBI36
NG_042179.2:g.4967_4970delinsGAGA
NG_046936.1:g.4903_4906delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
XM_011543439.1:c.-112_-109delinsGAGA	XP_011541741.1:n.-112_-109delinsGAGA
XM_011543441.1:c.-224+317_-224+320delinsGAGA	XP_011541743.1:n.-224+317_-224+320delinsGAGA
XM_011543444.1:c.-341_-338delinsGAGA	XP_011541746.1:n.-341_-338delinsGAGA
XM_011543445.1:c.-290_-287delinsGAGA	XP_011541747.1:n.-290_-287delinsGAGA
XM_011543447.1:c.-201_-198delinsGAGA	XP_011541749.1:n.-201_-198delinsGAGA
XM_017009544.2:c.-715_-712delinsGAGA	XP_016865033.1:n.-715_-712delinsGAGA
XM_017009545.2:c.-520_-517delinsGAGA	XP_016865034.1:n.-520_-517delinsGAGA
XM_024446086.1:c.-105_-102delinsGAGA	XP_024301854.1:n.-105_-102delinsGAGA
XM_024446093.1:c.227+317_227+320delinsGAGA	XP_024301861.1:n.227+317_227+320delinsGAGA
XM_024446096.1:c.-486_-483delinsGAGA	XP_024301864.1:n.-486_-483delinsGAGA
XM_024446097.1:c.-507_-504delinsGAGA	XP_024301865.1:n.-507_-504delinsGAGA
XM_024446099.1:c.-439+317_-439+320delinsGAGA	XP_024301867.1:n.-439+317_-439+320delinsGAGA
XM_024446100.1:c.-307_-304delinsGAGA	XP_024301868.1:n.-307_-304delinsGAGA
XM_024446101.1:c.-97_-94delinsGAGA	XP_024301869.1:n.-97_-94delinsGAGA
XM_024446103.1:c.-307_-304delinsGAGA	XP_024301871.1:n.-307_-304delinsGAGA