Canonical Allele Identifier: CA916083843
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 856634
ClinVar RCV Id: RCV001062137
dbSNP Id: rs1926298521
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604679_18604680del , CM000685.2:g.18604679_18604680del GRCh38
NC_000023.10:g.18622799_18622800del , CM000685.1:g.18622799_18622800del GRCh37
NC_000023.9:g.18532720_18532721del NCBI36
NG_008475.1:g.184075_184076del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1755_1756del MANE Select ENSP00000485244.1:p.Ser586CysfsTer24
ENST00000635828.1:c.1755_1756del ENSP00000490170.1:p.Ser586CysfsTer24
ENST00000674046.1:c.1755_1756del ENSP00000501174.1:p.Ser586CysfsTer24
ENST00000379989.6:c.1755_1756del ENSP00000369325.3:p.Ser586CysfsTer24
ENST00000379996.7:c.1755_1756del ENSP00000369332.3:p.Ser586CysfsTer24
ENST00000463994.4:c.1755_1756del ENSP00000485184.1:p.Ser586CysfsTer24
ENST00000623535.1:c.1755_1756del ENSP00000485244.1:p.Ser586CysfsTer24
NM_001037343.1:c.1755_1756del NP_001032420.1:p.Ser586CysfsTer24
NM_003159.2:c.1755_1756del NP_003150.1:p.Ser586CysfsTer24
XM_011545569.1:c.1704_1705del XP_011543871.1:p.Ser569CysfsTer24
XM_011545570.1:c.1623_1624del XP_011543872.1:p.Ser542CysfsTer24
XR_950484.1:n.2007_2008del
NM_001323289.1:c.1755_1756del NP_001310218.1:p.Ser586CysfsTer24
NM_001323289.2:c.1755_1756del MANE Select NP_001310218.1:p.Ser586CysfsTer24
NM_001037343.2:c.1755_1756del NP_001032420.1:p.Ser586CysfsTer24
NM_003159.3:c.1755_1756del NP_003150.1:p.Ser586CysfsTer24
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