Canonical Allele Identifier: CA515476986
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18650414A>G , CM000685.2:g.18650414A>G GRCh38
NC_000023.10:g.18668534A>G , CM000685.1:g.18668534A>G GRCh37
NC_000023.9:g.18578455A>G NCBI36
NG_008475.1:g.229810A>G
NG_008659.3:g.32035T>C , LRG_702:g.32035T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.185-3082T>C (RS1) MANE Select ENSP00000369320.3:n.185-3082T>C
ENST00000673617.1:n.74A>G (CDKL5)
ENST00000379984.3:c.185-3082T>C (RS1) ENSP00000369320.3:n.185-3082T>C
ENST00000379989.6:c.2802A>G (CDKL5) ENSP00000369325.3:p.Glu934=
ENST00000379996.7:c.2802A>G (CDKL5) ENSP00000369332.3:p.Glu934=
ENST00000476595.1:n.124T>C (RS1)
NM_000330.3:c.185-3082T>C , LRG_702t1:c.185-3082T>C (RS1) NP_000321.1:n.185-3082T>C
NM_001037343.1:c.2802A>G (CDKL5) NP_001032420.1:p.Glu934=
NM_003159.2:c.2802A>G (CDKL5) NP_003150.1:p.Glu934=
XM_011545569.1:c.2874A>G (CDKL5) XP_011543871.1:p.Glu958=
XM_011545570.1:c.2793A>G (CDKL5) XP_011543872.1:p.Glu931=
XR_950484.1:n.3177A>G (CDKL5)
NM_000330.4:c.185-3082T>C (RS1) MANE Select NP_000321.1:n.185-3082T>C
NM_001037343.2:c.2802A>G (CDKL5) NP_001032420.1:p.Glu934=
NM_003159.3:c.2802A>G (CDKL5) NP_003150.1:p.Glu934=
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