Linked Data
ClinVar Variation Id:
2689753
ClinVar RCV Id:
RCV003487095
dbSNP Id:
rs778790424
ExAC:
19:18266937 TGGCCC / T
gnomAD v2:
19-18266937-TGGCCC-T
gnomAD v3:
19-18156127-TGGCCC-T
gnomAD v4:
19-18156127-TGGCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156138_18156142del , CM000681.2:g.18156138_18156142del | GRCh38 |
| NC_000019.9:g.18266948_18266952del , CM000681.1:g.18266948_18266952del | GRCh37 |
| NC_000019.8:g.18127948_18127952del | NCBI36 |
| NG_033010.1:g.7961_7965del | |
| NG_033010.2:g.7961_7965del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.259_263del MANE Select | ENSP00000222254.6:p.Gly87SerfsTer14 | |
| ENST00000617130.5:c.259_263del | ENSP00000477864.2:p.Gly87SerfsTer14 | |
| ENST00000617642.2:c.259_263del | ENSP00000484714.2:p.Gly87SerfsTer14 | |
| ENST00000222254.12:c.259_263del | ENSP00000222254.6:p.Gly87SerfsTer14 | |
| ENST00000426902.5:c.259_263del | ENSP00000395636.1:p.Gly87SerfsTer14 | |
| ENST00000593731.1:c.259_263del | ENSP00000471914.1:p.Gly87SerfsTer14 | |
| ENST00000617130.4:c.259_263del | ENSP00000477864.1:p.Gly87SerfsTer14 | |
| ENST00000617642.1:c.259_263del | ENSP00000484714.1:p.Gly87SerfsTer14 | |
| NM_005027.3:c.259_263del | NP_005018.1:p.Gly87SerfsTer14 | |
| NR_073517.1:n.799_803del | ||
| NM_005027.4:c.259_263del MANE Select | NP_005018.2:p.Gly87SerfsTer14 | |
| NR_073517.2:n.814_818del | ||
| NR_162071.1:n.814_818del |