Canonical Allele Identifier: CA2675303425

Gene: CDKL3

Linked Data

• gnomAD v4: 5-134371119-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371119G>T , CM000667.2:g.134371119G>T	GRCh38
NC_000005.9:g.133706810G>T , CM000667.1:g.133706810G>T	GRCh37
NC_000005.8:g.133734709G>T	NCBI36
NG_042179.2:g.4929C>A
NG_046936.1:g.4944G>T

Transcript Alleles

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