Linked Data
gnomAD v4:
9-128945650-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945652_128945653del , CM000671.2:g.128945652_128945653del | GRCh38 |
| NC_000009.11:g.131707931_131707932del , CM000671.1:g.131707931_131707932del | GRCh37 |
| NC_000009.10:g.130747752_130747753del | NCBI36 |
| NG_017009.1:g.7082_7083del , LRG_744:g.7082_7083del | |
| NG_033111.1:g.2960_2961del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.*35_*36del MANE Select | ENSP00000361667.3:n.*35_*36del | |
| ENST00000372586.3:c.*35_*36del | ENSP00000361667.3:n.*35_*36del | |
| ENST00000482796.1:c.39-3537_39-3536del | ENSP00000417556.2:n.39-3537_39-3536del | |
| NM_014908.3:c.*35_*36del , LRG_744t1:c.*35_*36del | NP_055723.1:n.*35_*36del | |
| NM_014908.4:c.*35_*36del MANE Select | NP_055723.1:n.*35_*36del |