Linked Data
ClinVar Variation Id:
161787
ClinVar RCV Id:
RCV000149323
dbSNP Id:
rs193920844
COSMIC:
COSM1179711
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75101742dup , CM000676.2:g.75101742dup | GRCh38 |
| NC_000014.8:g.75568445dup , CM000676.1:g.75568445dup | GRCh37 |
| NC_000014.7:g.74638198dup | NCBI36 |
| NG_051093.1:g.30340dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000238616.10:c.1756dup (NEK9) MANE Select | ENSP00000238616.5:p.Thr586AsnfsTer13 | |
| ENST00000673981.1:c.*80-7145dup (ZC2HC1C) | ENSP00000501014.1:n.*80-7145dup | |
| ENST00000676476.1:n.323dup (NEK9) | ||
| ENST00000676711.1:n.494dup (NEK9) | ||
| ENST00000677700.1:c.1658dup (NEK9) | ||
| ENST00000678037.1:c.1792dup (NEK9) | ENSP00000504620.1:p.Thr598AsnfsTer13 | |
| ENST00000678531.1:c.1402dup (NEK9) | ENSP00000503827.1:p.Thr468AsnfsTer13 | |
| ENST00000678749.1:c.1402dup (NEK9) | ENSP00000504104.1:p.Thr468AsnfsTer13 | |
| ENST00000238616.9:c.1756dup (NEK9) | ENSP00000238616.5:p.Thr586AsnfsTer13 | |
| ENST00000556170.5:n.2385dup (NEK9) | ||
| ENST00000557026.5:n.1550dup (NEK9) | ||
| NM_033116.4:c.1756dup (NEK9) | NP_149107.4:p.Thr586AsnfsTer13 | |
| XM_005268208.1:c.1792dup (NEK9) | XP_005268265.1:p.Thr598AsnfsTer13 | |
| XM_005268209.2:c.1438dup (NEK9) | XP_005268266.1:p.Thr480AsnfsTer13 | |
| NM_001329237.1:c.1792dup (NEK9) | NP_001316166.1:p.Thr598AsnfsTer13 | |
| NM_001329238.1:c.1402dup (NEK9) | NP_001316167.1:p.Thr468AsnfsTer13 | |
| NM_033116.5:c.1756dup (NEK9) | NP_149107.4:p.Thr586AsnfsTer13 | |
| XM_005268209.3:c.1438dup (NEK9) | XP_005268266.1:p.Thr480AsnfsTer13 | |
| XM_024449741.1:c.1438dup (NEK9) | XP_024305509.1:p.Thr480AsnfsTer13 | |
| NM_033116.6:c.1756dup (NEK9) MANE Select | NP_149107.4:p.Thr586AsnfsTer13 | |
| NM_001329237.2:c.1792dup (NEK9) | NP_001316166.1:p.Thr598AsnfsTer13 | |
| NM_001329238.2:c.1402dup (NEK9) | NP_001316167.1:p.Thr468AsnfsTer13 |