Canonical Allele Identifier: CA170473
Gene: CDKL5 HGNC NCBI

Linked Data

dbSNP Id: rs267608441
MyVariant Identifiers: chrX:g.18593557_18593560del (hg19) chrX:g.18575437_18575440del (hg38)
PubMed: PMID:18790821
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18575437_18575440del , CM000685.2:g.18575437_18575440del GRCh38
NC_000023.10:g.18593557_18593560del , CM000685.1:g.18593557_18593560del GRCh37
NC_000023.9:g.18503478_18503481del NCBI36
NG_008475.1:g.154833_154836del

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.229_232del MANE Select ENSP00000485244.1:p.Glu77HisfsTer?
ENST00000635828.1:c.229_232del ENSP00000490170.1:p.Glu77HisfsTer?
ENST00000637881.1:c.229_232del ENSP00000489879.1:p.Glu77HisfsTer?
ENST00000674046.1:c.229_232del ENSP00000501174.1:p.Glu77HisfsTer?
ENST00000379989.6:c.229_232del ENSP00000369325.3:p.Glu77HisfsTer?
ENST00000379996.7:c.229_232del ENSP00000369332.3:p.Glu77HisfsTer?
ENST00000463994.4:c.229_232del ENSP00000485184.1:p.Glu77HisfsTer?
ENST00000623535.1:c.229_232del ENSP00000485244.1:p.Glu77HisfsTer?
NM_001037343.1:c.229_232del NP_001032420.1:p.Glu77HisfsTer?
NM_003159.2:c.229_232del NP_003150.1:p.Glu77HisfsTer?
XM_011545569.1:c.229_232del XP_011543871.1:p.Glu77HisfsTer?
XM_011545570.1:c.97_100del XP_011543872.1:p.Glu33HisfsTer?
XR_950484.1:n.481_484del
NM_001323289.1:c.229_232del NP_001310218.1:p.Glu77HisfsTer?
NM_001323289.2:c.229_232del MANE Select NP_001310218.1:p.Glu77HisfsTer?
NM_001037343.2:c.229_232del NP_001032420.1:p.Glu77HisfsTer?
NM_003159.3:c.229_232del NP_003150.1:p.Glu77HisfsTer?
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