Canonical Allele Identifier: CA170467
Gene: CDKL5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143793
ClinVar RCV Id: RCV000133340
dbSNP Id: rs267608649

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18608882dup , CM000685.2:g.18608882dup GRCh38
NC_000023.10:g.18627002dup , CM000685.1:g.18627002dup GRCh37
NC_000023.9:g.18536923dup NCBI36
NG_008475.1:g.188278dup

Transcript Alleles

HGVS Amino-acid change
NM_001037343.1:c.2016dup VV
NM_003159.2:c.2016dup VV
XM_011545569.1:c.1965dup
XM_011545570.1:c.1884dup
XR_950484.1:n.2268dup
NM_001323289.1:c.2016dup VV
ENST00000379989.6:c.2016dup
ENST00000379996.7:c.2016dup
ENST00000463994.4:c.2016dup
ENST00000623535.1:n.2016dup