Canonical Allele Identifier: CA916083854
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 870173
ClinVar RCV Id: RCV001089708
dbSNP Id: rs1925573011

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18584294dup , CM000685.2:g.18584294dup GRCh38
NC_000023.10:g.18602414dup , CM000685.1:g.18602414dup GRCh37
NC_000023.9:g.18512335dup NCBI36
NG_008475.1:g.163690dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.495dup MANE Select ENSP00000485244.1:p.Ala166CysfsTer2
ENST00000635828.1:c.495dup ENSP00000490170.1:p.Ala166CysfsTer2
ENST00000637881.1:c.495dup ENSP00000489879.1:p.Ala166CysfsTer2
ENST00000674046.1:c.495dup ENSP00000501174.1:p.Ala166CysfsTer2
ENST00000379989.6:c.495dup ENSP00000369325.3:p.Ala166CysfsTer2
ENST00000379996.7:c.495dup ENSP00000369332.3:p.Ala166CysfsTer2
ENST00000463994.4:c.495dup ENSP00000485184.1:p.Ala166CysfsTer2
ENST00000623535.1:c.495dup ENSP00000485244.1:p.Ala166CysfsTer2
NM_001037343.1:c.495dup NP_001032420.1:p.Ala166CysfsTer2
NM_003159.2:c.495dup NP_003150.1:p.Ala166CysfsTer2
XM_011545569.1:c.495dup XP_011543871.1:p.Ala166CysfsTer2
XM_011545570.1:c.363dup XP_011543872.1:p.Ala122CysfsTer2
XR_950484.1:n.747dup
NM_001323289.1:c.495dup NP_001310218.1:p.Ala166CysfsTer2
NM_001323289.2:c.495dup MANE Select NP_001310218.1:p.Ala166CysfsTer2
NM_001037343.2:c.495dup NP_001032420.1:p.Ala166CysfsTer2
NM_003159.3:c.495dup NP_003150.1:p.Ala166CysfsTer2