Linked Data
ClinVar Variation Id:
68078
ClinVar RCV Id:
RCV000058882
dbSNP Id:
rs199469700
gnomAD v4:
X-18642015-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18642016dup , CM000685.2:g.18642016dup | GRCh38 |
| NC_000023.10:g.18660136dup , CM000685.1:g.18660136dup | GRCh37 |
| NC_000023.9:g.18570057dup | NCBI36 |
| NG_008475.1:g.221412dup | |
| NG_008659.3:g.40433dup , LRG_702:g.40433dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379984.4:c.663dup (RS1) MANE Select | ENSP00000369320.3:p.Lys222GlnfsTer? | |
| ENST00000379984.3:c.663dup (RS1) | ENSP00000369320.3:p.Lys222GlnfsTer? | |
| ENST00000379989.6:c.2714-3991dup (CDKL5) | ENSP00000369325.3:n.2714-3991dup | |
| ENST00000379996.7:c.2714-3991dup (CDKL5) | ENSP00000369332.3:n.2714-3991dup | |
| ENST00000476595.1:n.1154dup (RS1) | ||
| NM_000330.3:c.663dup , LRG_702t1:c.663dup (RS1) | NP_000321.1:p.Lys222GlnfsTer? | |
| NM_001037343.1:c.2714-3991dup (CDKL5) | NP_001032420.1:n.2714-3991dup | |
| NM_003159.2:c.2714-3991dup (CDKL5) | NP_003150.1:n.2714-3991dup | |
| XM_011545569.1:c.2786-3991dup (CDKL5) | XP_011543871.1:n.2786-3991dup | |
| XM_011545570.1:c.2705-3991dup (CDKL5) | XP_011543872.1:n.2705-3991dup | |
| XR_950484.1:n.3089-3991dup (CDKL5) | ||
| NM_000330.4:c.663dup (RS1) MANE Select | NP_000321.1:p.Lys222GlnfsTer? | |
| NM_001037343.2:c.2714-3991dup (CDKL5) | NP_001032420.1:n.2714-3991dup | |
| NM_003159.3:c.2714-3991dup (CDKL5) | NP_003150.1:n.2714-3991dup |