Canonical Allele Identifier: CA915950768
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 803722
ClinVar RCV Id: RCV000990484
dbSNP Id: rs1602286792
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18604666dup , CM000685.2:g.18604666dup GRCh38
NC_000023.10:g.18622786dup , CM000685.1:g.18622786dup GRCh37
NC_000023.9:g.18532707dup NCBI36
NG_008475.1:g.184062dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.1742dup MANE Select ENSP00000485244.1:p.His581GlnfsTer30
ENST00000635828.1:c.1742dup ENSP00000490170.1:p.His581GlnfsTer30
ENST00000674046.1:c.1742dup ENSP00000501174.1:p.His581GlnfsTer30
ENST00000379989.6:c.1742dup ENSP00000369325.3:p.His581GlnfsTer30
ENST00000379996.7:c.1742dup ENSP00000369332.3:p.His581GlnfsTer30
ENST00000463994.4:c.1742dup ENSP00000485184.1:p.His581GlnfsTer30
ENST00000623535.1:c.1742dup ENSP00000485244.1:p.His581GlnfsTer30
NM_001037343.1:c.1742dup NP_001032420.1:p.His581GlnfsTer30
NM_003159.2:c.1742dup NP_003150.1:p.His581GlnfsTer30
XM_011545569.1:c.1691dup XP_011543871.1:p.His564GlnfsTer30
XM_011545570.1:c.1610dup XP_011543872.1:p.His537GlnfsTer30
XR_950484.1:n.1994dup
NM_001323289.1:c.1742dup NP_001310218.1:p.His581GlnfsTer30
NM_001323289.2:c.1742dup MANE Select NP_001310218.1:p.His581GlnfsTer30
NM_001037343.2:c.1742dup NP_001032420.1:p.His581GlnfsTer30
NM_003159.3:c.1742dup NP_003150.1:p.His581GlnfsTer30
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