Linked Data
ClinVar Variation Id:
255901
ClinVar RCV Id:
RCV000245725
dbSNP Id:
rs886038284
gnomAD v2:
17-42327808-AGGGCCT-A
gnomAD v3:
17-44250440-AGGGCCT-A
gnomAD v4:
17-44250440-AGGGCCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44250446_44250451del , CM000679.2:g.44250446_44250451del | GRCh38 |
| NC_000017.10:g.42327814_42327819del , CM000679.1:g.42327814_42327819del | GRCh37 |
| NC_000017.9:g.39683340_39683345del | NCBI36 |
| NG_007498.1:g.22689_22694del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.*12_*17del MANE Select | ENSP00000262418.6:n.*12_*17del | |
| ENST00000262418.10:c.*12_*17del | ENSP00000262418.6:n.*12_*17del | |
| ENST00000399246.3:c.*12_*17del | ENSP00000382190.3:n.*12_*17del | |
| NM_000342.3:c.*12_*17del | NP_000333.1:n.*12_*17del | |
| XM_005257593.3:c.*12_*17del | XP_005257650.1:n.*12_*17del | |
| XM_011525129.1:c.*12_*17del | XP_011523431.1:n.*12_*17del | |
| XM_005257593.5:c.*12_*17del | XP_005257650.1:n.*12_*17del | |
| XM_011525129.2:c.*12_*17del | XP_011523431.1:n.*12_*17del | |
| NM_000342.4:c.*12_*17del MANE Select | NP_000333.1:n.*12_*17del |