Canonical Allele Identifier: CA2580615397
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1335976
ClinVar RCV Id: RCV001822158
dbSNP Id: rs2147160920
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604536_18604537del , CM000685.2:g.18604536_18604537del GRCh38
NC_000023.10:g.18622656_18622657del , CM000685.1:g.18622656_18622657del GRCh37
NC_000023.9:g.18532577_18532578del NCBI36
NG_008475.1:g.183932_183933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1612_1613del MANE Select ENSP00000485244.1:p.Thr538GlufsTer11
ENST00000635828.1:c.1612_1613del ENSP00000490170.1:p.Thr538GlufsTer11
ENST00000674046.1:c.1612_1613del ENSP00000501174.1:p.Thr538GlufsTer11
ENST00000379989.6:c.1612_1613del ENSP00000369325.3:p.Thr538GlufsTer11
ENST00000379996.7:c.1612_1613del ENSP00000369332.3:p.Thr538GlufsTer11
ENST00000463994.4:c.1612_1613del ENSP00000485184.1:p.Thr538GlufsTer11
ENST00000623535.1:c.1612_1613del ENSP00000485244.1:p.Thr538GlufsTer11
NM_001037343.1:c.1612_1613del NP_001032420.1:p.Thr538GlufsTer11
NM_003159.2:c.1612_1613del NP_003150.1:p.Thr538GlufsTer11
XM_011545569.1:c.1561_1562del XP_011543871.1:p.Thr521GlufsTer11
XM_011545570.1:c.1480_1481del XP_011543872.1:p.Thr494GlufsTer11
XR_950484.1:n.1864_1865del
NM_001323289.1:c.1612_1613del NP_001310218.1:p.Thr538GlufsTer11
NM_001323289.2:c.1612_1613del MANE Select NP_001310218.1:p.Thr538GlufsTer11
NM_001037343.2:c.1612_1613del NP_001032420.1:p.Thr538GlufsTer11
NM_003159.3:c.1612_1613del NP_003150.1:p.Thr538GlufsTer11
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