Linked Data
ClinVar Variation Id:
97043
ClinVar RCV Id:
RCV000083289
dbSNP Id:
rs431905519
ExAC:
9:131396091 CTG / C
gnomAD v2:
9-131396091-CTG-C
gnomAD v3:
9-128633812-CTG-C
gnomAD v4:
9-128633812-CTG-C
MyVariant Identifiers:
chr9:g.131396092_131396093del (hg19)
chr9:g.128633814_128633815del (hg38)
chr9:g.128633813_128633814del (hg38)
PubMed:
PMID:24183451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128633815_128633816del , CM000671.2:g.128633815_128633816del | GRCh38 |
| NC_000009.11:g.131396094_131396095del , CM000671.1:g.131396094_131396095del | GRCh37 |
| NC_000009.10:g.130435915_130435916del | NCBI36 |
| NG_027748.1:g.86258_86259del | |
| NG_034056.1:g.28037_28038del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372715.7:c.1541_1542del MANE Select | ENSP00000361800.2:p.Thr514ArgfsTer11 | |
| ENST00000372715.6:c.1541_1542del | ENSP00000361800.2:p.Thr514ArgfsTer11 | |
| NM_052844.3:c.1541_1542del | NP_443076.2:p.Thr514ArgfsTer11 | |
| XM_011519179.1:c.1457_1458del | XP_011517481.1:p.Thr486ArgfsTer11 | |
| XM_011519179.2:c.1457_1458del | XP_011517481.1:p.Thr486ArgfsTer11 | |
| NM_052844.4:c.1541_1542del MANE Select | NP_443076.2:p.Thr514ArgfsTer11 |