Canonical Allele Identifier: CA10603553
Gene: RS1 HGNC NCBI
CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18644433del , CM000685.2:g.18644433del GRCh38
NC_000023.10:g.18662553del , CM000685.1:g.18662553del GRCh37
NC_000023.9:g.18572474del NCBI36
NG_008475.1:g.223829del
NG_008659.3:g.38017del , LRG_702:g.38017del

Transcript Alleles

HGVS Amino-acid Change
NM_000330.4:c.520del (RS1) MANE Select NP_000321.1:p.Arg174GlyfsTer?
ENST00000379984.4:c.520del (RS1) MANE Select ENSP00000369320.3:p.Arg174GlyfsTer?
NM_000330.3:c.520del , LRG_702t1:c.520del (RS1) NP_000321.1:p.Arg174GlyfsTer?
NM_001037343.1:c.2714-1574del (CDKL5) NP_001032420.1:n.2714-1574del
NM_001037343.2:c.2714-1574del (CDKL5) NP_001032420.1:n.2714-1574del
NM_003159.2:c.2714-1574del (CDKL5) NP_003150.1:n.2714-1574del
NM_003159.3:c.2714-1574del (CDKL5) NP_003150.1:n.2714-1574del
ENST00000379984.3:c.520del (RS1) ENSP00000369320.3:p.Arg174GlyfsTer?
ENST00000379989.6:c.2714-1574del (CDKL5) ENSP00000369325.3:n.2714-1574del
ENST00000379996.7:c.2714-1574del (CDKL5) ENSP00000369332.3:n.2714-1574del
ENST00000476595.1:n.1011del (RS1)
XM_011545569.1:c.2786-1574del (CDKL5) XP_011543871.1:n.2786-1574del
XM_011545570.1:c.2705-1574del (CDKL5) XP_011543872.1:n.2705-1574del
XR_950484.1:n.3089-1574del (CDKL5)
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