Canonical Allele Identifier: CA3038273245
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18603932_18603954del , CM000685.2:g.18603932_18603954del GRCh38
NC_000023.10:g.18622052_18622074del , CM000685.1:g.18622052_18622074del GRCh37
NC_000023.9:g.18531973_18531995del NCBI36
NG_008475.1:g.183328_183350del

Transcript Alleles

HGVS Amino-acid Change
NM_001323289.2:c.1008_1030del MANE Select NP_001310218.1:p.Ser337GlyfsTer13
ENST00000623535.2:c.1008_1030del MANE Select ENSP00000485244.1:p.Ser337GlyfsTer13
NM_001037343.1:c.1008_1030del NP_001032420.1:p.Ser337GlyfsTer13
NM_001037343.2:c.1008_1030del NP_001032420.1:p.Ser337GlyfsTer13
NM_001323289.1:c.1008_1030del NP_001310218.1:p.Ser337GlyfsTer13
NM_003159.2:c.1008_1030del NP_003150.1:p.Ser337GlyfsTer13
NM_003159.3:c.1008_1030del NP_003150.1:p.Ser337GlyfsTer13
ENST00000379989.6:c.1008_1030del ENSP00000369325.3:p.Ser337GlyfsTer13
ENST00000379996.7:c.1008_1030del ENSP00000369332.3:p.Ser337GlyfsTer13
ENST00000463994.4:c.1008_1030del ENSP00000485184.1:p.Ser337GlyfsTer13
ENST00000623535.1:c.1008_1030del ENSP00000485244.1:p.Ser337GlyfsTer13
ENST00000635828.1:c.1008_1030del ENSP00000490170.1:p.Ser337GlyfsTer13
ENST00000637881.1:c.1008_1030del ENSP00000489879.1:p.Ser337GlyfsTer13
ENST00000674046.1:c.1008_1030del ENSP00000501174.1:p.Ser337GlyfsTer13
XM_011545569.1:c.957_979del XP_011543871.1:p.Ser320GlyfsTer13
XM_011545570.1:c.876_898del XP_011543872.1:p.Ser293GlyfsTer13
XR_950484.1:n.1260_1282del
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