Linked Data
ClinVar Variation Id:
98170
dbSNP Id:
rs63750805
gnomAD v2:
17-42429128-AC-A
gnomAD v3:
17-44351760-AC-A
gnomAD v4:
17-44351760-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351761del , CM000679.2:g.44351761del | GRCh38 |
| NC_000017.10:g.42429129del , CM000679.1:g.42429129del | GRCh37 |
| NC_000017.9:g.39784655del | NCBI36 |
| NG_007886.1:g.11639del , LRG_661:g.11639del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1145del MANE Select | ENSP00000053867.2:p.Thr382SerfsTer30 | |
| ENST00000639447.1:c.1136+9del | ENSP00000492014.1:n.1136+9del | |
| ENST00000053867.7:c.1145del | ENSP00000053867.2:p.Thr382SerfsTer30 | |
| ENST00000586443.1:c.586del | ||
| ENST00000589265.5:c.674del | ENSP00000467616.1:p.Thr225SerfsTer30 | |
| ENST00000589923.1:n.403del | ||
| NM_002087.3:c.1145del | NP_002078.1:p.Thr382SerfsTer30 | |
| XM_005257253.1:c.1145del | XP_005257310.1:p.Thr382SerfsTer30 | |
| XM_024450730.1:c.1145del | XP_024306498.1:p.Thr382SerfsTer30 | |
| NM_002087.4:c.1145del MANE Select | NP_002078.1:p.Thr382SerfsTer30 |