Canonical Allele Identifier: CA128335112

Gene: CDKL3

Linked Data

• dbSNP Id: rs774660659
• gnomAD v4: 5-134371093-CAG-C
• MyVariant Identifiers: chr5:g.133706785_133706786del (hg19) ; chr5:g.134371094_134371095del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371094_134371095del , CM000667.2:g.134371094_134371095del	GRCh38
NC_000005.9:g.133706785_133706786del , CM000667.1:g.133706785_133706786del	GRCh37
NC_000005.8:g.133734684_133734685del	NCBI36
NG_042179.2:g.4953_4954del
NG_046936.1:g.4919_4920del

Transcript Alleles

HGVS	Amino-acid Change
XM_011543441.1:c.-224+303_-224+304del	XP_011541743.1:n.-224+303_-224+304del
XM_017009544.2:c.-729_-728del	XP_016865033.1:n.-729_-728del
XM_017009545.2:c.-534_-533del	XP_016865034.1:n.-534_-533del
XM_024446086.1:c.-119_-118del	XP_024301854.1:n.-119_-118del
XM_024446093.1:c.227+303_227+304del	XP_024301861.1:n.227+303_227+304del
XM_024446096.1:c.-500_-499del	XP_024301864.1:n.-500_-499del
XM_024446097.1:c.-521_-520del	XP_024301865.1:n.-521_-520del
XM_024446099.1:c.-439+303_-439+304del	XP_024301867.1:n.-439+303_-439+304del
XM_024446100.1:c.-321_-320del	XP_024301868.1:n.-321_-320del
XM_024446101.1:c.-111_-110del	XP_024301869.1:n.-111_-110del
XM_024446103.1:c.-321_-320del	XP_024301871.1:n.-321_-320del