Linked Data
gnomAD v4:
9-129813785-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813787del , CM000671.2:g.129813787del | GRCh38 |
| NC_000009.11:g.132576066del , CM000671.1:g.132576066del | GRCh37 |
| NC_000009.10:g.131615887del | NCBI36 |
| NG_008049.1:g.15377del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*186del MANE Select | ENSP00000345719.4:n.*186del | |
| ENST00000651202.1:c.*453del | ENSP00000498222.1:n.*453del | |
| ENST00000351698.4:c.*186del | ENSP00000345719.4:n.*186del | |
| ENST00000474192.1:n.769del | ||
| NM_000113.2:c.*186del | NP_000104.1:n.*186del | |
| XR_929731.3:n.1380del | ||
| NM_000113.3:c.*186del MANE Select | NP_000104.1:n.*186del |