Linked Data
gnomAD v4:
9-129813788-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813791del , CM000671.2:g.129813791del | GRCh38 |
| NC_000009.11:g.132576070del , CM000671.1:g.132576070del | GRCh37 |
| NC_000009.10:g.131615891del | NCBI36 |
| NG_008049.1:g.15374del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*183del MANE Select | ENSP00000345719.4:n.*183del | |
| ENST00000651202.1:c.*450del | ENSP00000498222.1:n.*450del | |
| ENST00000351698.4:c.*183del | ENSP00000345719.4:n.*183del | |
| ENST00000474192.1:n.766del | ||
| NM_000113.2:c.*183del | NP_000104.1:n.*183del | |
| XR_929731.3:n.1377del | ||
| NM_000113.3:c.*183del MANE Select | NP_000104.1:n.*183del |