Linked Data
dbSNP Id:
rs771627177
ExAC:
17:58227379 CTT / C
gnomAD v2:
17-58227379-CTT-C
gnomAD v3:
17-60150018-CTT-C
gnomAD v4:
17-60150018-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.60150020_60150021del , CM000679.2:g.60150020_60150021del | GRCh38 |
| NC_000017.10:g.58227381_58227382del , CM000679.1:g.58227381_58227382del | GRCh37 |
| NC_000017.9:g.55582163_55582164del | NCBI36 |
| NG_012050.1:g.5080_5081del | |
| NG_012050.2:g.5080_5081del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300900.9:c.-15_-14del MANE Select | ENSP00000300900.3:n.-15_-14del | |
| ENST00000300900.8:c.-15_-14del | ENSP00000300900.3:n.-15_-14del | |
| ENST00000585705.5:n.79_80del | ||
| ENST00000586876.1:c.-15_-14del | ENSP00000467465.1:n.-15_-14del | |
| ENST00000591725.1:c.-373_-372del | ENSP00000466964.1:n.-373_-372del | |
| NM_000717.3:c.-15_-14del | NP_000708.1:n.-15_-14del | |
| XM_005257639.1:c.-15_-14del | XP_005257696.1:n.-15_-14del | |
| NM_000717.4:c.-15_-14del | NP_000708.1:n.-15_-14del | |
| NR_137422.1:n.85_86del | ||
| XM_005257639.3:c.-15_-14del | XP_005257696.1:n.-15_-14del | |
| XR_001752604.2:n.79_80del | ||
| XR_001752605.2:n.79_80del | ||
| XR_001752606.2:n.79_80del | ||
| XR_001752607.2:n.79_80del | ||
| XR_001752608.2:n.79_80del | ||
| XR_001752609.2:n.79_80del | ||
| XR_001752610.2:n.79_80del | ||
| NM_000717.5:c.-15_-14del MANE Select | NP_000708.1:n.-15_-14del | |
| NR_137422.2:n.48_49del |