Canonical Allele Identifier: CA412369187
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 489299
ClinVar RCV Id: RCV000578897 RCV000735202 RCV002281117 RCV004017682
dbSNP Id: rs1555955296
MyVariant Identifiers: chrX:g.18646836C>T (hg19) chrX:g.18628716C>T (hg38)
ERepo: CA412369187/MONDO:0100039/016
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18628716C>T , CM000685.2:g.18628716C>T GRCh38
NC_000023.10:g.18646836C>T , CM000685.1:g.18646836C>T GRCh37
NC_000023.9:g.18556757C>T NCBI36
NG_008475.1:g.208112C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623535.2:c.2842C>T MANE Select ENSP00000485244.1:p.Arg948Ter
ENST00000674046.1:c.2965C>T ENSP00000501174.1:p.Arg989Ter
ENST00000379989.6:c.2713+129C>T ENSP00000369325.3:n.2713+129C>T
ENST00000379996.7:c.2713+129C>T ENSP00000369332.3:n.2713+129C>T
ENST00000623535.1:c.2842C>T ENSP00000485244.1:p.Arg948Ter
NM_001037343.1:c.2713+129C>T NP_001032420.1:n.2713+129C>T
NM_003159.2:c.2713+129C>T NP_003150.1:n.2713+129C>T
XM_011545569.1:c.2785+129C>T XP_011543871.1:n.2785+129C>T
XM_011545570.1:c.2704+129C>T XP_011543872.1:n.2704+129C>T
XR_950484.1:n.3088+129C>T
NM_001323289.1:c.2842C>T NP_001310218.1:p.Arg948Ter
NM_001323289.2:c.2842C>T MANE Select NP_001310218.1:p.Arg948Ter
NM_001037343.2:c.2713+129C>T NP_001032420.1:n.2713+129C>T
NM_003159.3:c.2713+129C>T NP_003150.1:n.2713+129C>T
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