Canonical Allele Identifier: CA2695231304
Gene: CDKL5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604515_18604528del , CM000685.2:g.18604515_18604528del GRCh38
NC_000023.10:g.18622635_18622648del , CM000685.1:g.18622635_18622648del GRCh37
NC_000023.9:g.18532556_18532569del NCBI36
NG_008475.1:g.183911_183924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1591_1604del MANE Select ENSP00000485244.1:p.Thr531GlnfsTer2
ENST00000635828.1:c.1591_1604del ENSP00000490170.1:p.Thr531GlnfsTer2
ENST00000674046.1:c.1591_1604del ENSP00000501174.1:p.Thr531GlnfsTer2
ENST00000379989.6:c.1591_1604del ENSP00000369325.3:p.Thr531GlnfsTer2
ENST00000379996.7:c.1591_1604del ENSP00000369332.3:p.Thr531GlnfsTer2
ENST00000463994.4:c.1591_1604del ENSP00000485184.1:p.Thr531GlnfsTer2
ENST00000623535.1:c.1591_1604del ENSP00000485244.1:p.Thr531GlnfsTer2
NM_001037343.1:c.1591_1604del NP_001032420.1:p.Thr531GlnfsTer2
NM_003159.2:c.1591_1604del NP_003150.1:p.Thr531GlnfsTer2
XM_011545569.1:c.1540_1553del XP_011543871.1:p.Thr514GlnfsTer2
XM_011545570.1:c.1459_1472del XP_011543872.1:p.Thr487GlnfsTer2
XR_950484.1:n.1843_1856del
NM_001323289.1:c.1591_1604del NP_001310218.1:p.Thr531GlnfsTer2
NM_001323289.2:c.1591_1604del MANE Select NP_001310218.1:p.Thr531GlnfsTer2
NM_001037343.2:c.1591_1604del NP_001032420.1:p.Thr531GlnfsTer2
NM_003159.3:c.1591_1604del NP_003150.1:p.Thr531GlnfsTer2
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