Canonical Allele Identifier: CA199384
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 189567
ClinVar RCV Id: RCV000170014
dbSNP Id: rs786204975

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604778del , CM000685.2:g.18604778del GRCh38
NC_000023.10:g.18622898del , CM000685.1:g.18622898del GRCh37
NC_000023.9:g.18532819del NCBI36
NG_008475.1:g.184174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1854del MANE Select ENSP00000485244.1:p.Asp618GlufsTer3
ENST00000635828.1:c.1854del ENSP00000490170.1:p.Asp618GlufsTer3
ENST00000674046.1:c.1854del ENSP00000501174.1:p.Asp618GlufsTer3
ENST00000379989.6:c.1854del ENSP00000369325.3:p.Asp618GlufsTer3
ENST00000379996.7:c.1854del ENSP00000369332.3:p.Asp618GlufsTer3
ENST00000463994.4:c.1854del ENSP00000485184.1:p.Asp618GlufsTer3
ENST00000623535.1:c.1854del ENSP00000485244.1:p.Asp618GlufsTer3
NM_001037343.1:c.1854del NP_001032420.1:p.Asp618GlufsTer3
NM_003159.2:c.1854del NP_003150.1:p.Asp618GlufsTer3
XM_011545569.1:c.1803del XP_011543871.1:p.Asp601GlufsTer3
XM_011545570.1:c.1722del XP_011543872.1:p.Asp574GlufsTer3
XR_950484.1:n.2106del
NM_001323289.1:c.1854del NP_001310218.1:p.Asp618GlufsTer3
NM_001323289.2:c.1854del MANE Select NP_001310218.1:p.Asp618GlufsTer3
NM_001037343.2:c.1854del NP_001032420.1:p.Asp618GlufsTer3
NM_003159.3:c.1854del NP_003150.1:p.Asp618GlufsTer3