Canonical Allele Identifier: CA2819902203
Gene: CDKL5 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604522_18604525del , CM000685.2:g.18604522_18604525del GRCh38
NC_000023.10:g.18622642_18622645del , CM000685.1:g.18622642_18622645del GRCh37
NC_000023.9:g.18532563_18532566del NCBI36
NG_008475.1:g.183918_183921del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1598_1601del MANE Select ENSP00000485244.1:p.Thr533AsnfsTer?
ENST00000635828.1:c.1598_1601del ENSP00000490170.1:p.Thr533AsnfsTer?
ENST00000674046.1:c.1598_1601del ENSP00000501174.1:p.Thr533AsnfsTer?
ENST00000379989.6:c.1598_1601del ENSP00000369325.3:p.Thr533AsnfsTer?
ENST00000379996.7:c.1598_1601del ENSP00000369332.3:p.Thr533AsnfsTer?
ENST00000463994.4:c.1598_1601del ENSP00000485184.1:p.Thr533AsnfsTer?
ENST00000623535.1:c.1598_1601del ENSP00000485244.1:p.Thr533AsnfsTer?
NM_001037343.1:c.1598_1601del NP_001032420.1:p.Thr533AsnfsTer?
NM_003159.2:c.1598_1601del NP_003150.1:p.Thr533AsnfsTer?
XM_011545569.1:c.1547_1550del XP_011543871.1:p.Thr516AsnfsTer?
XM_011545570.1:c.1466_1469del XP_011543872.1:p.Thr489AsnfsTer?
XR_950484.1:n.1850_1853del
NM_001323289.1:c.1598_1601del NP_001310218.1:p.Thr533AsnfsTer?
NM_001323289.2:c.1598_1601del MANE Select NP_001310218.1:p.Thr533AsnfsTer?
NM_001037343.2:c.1598_1601del NP_001032420.1:p.Thr533AsnfsTer?
NM_003159.3:c.1598_1601del NP_003150.1:p.Thr533AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'