Linked Data
gnomAD v4:
1-1535437-GAAGGGCCTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535438_1535447del , CM000663.2:g.1535438_1535447del | GRCh38 |
| NC_000001.10:g.1470818_1470827del , CM000663.1:g.1470818_1470827del | GRCh37 |
| NC_000001.9:g.1460681_1460690del | NCBI36 |
| NG_041807.1:g.9914_9923del | |
| NG_053035.1:g.28296_28305del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.434_443del MANE Select | ENSP00000368007.4:p.His145ProfsTer11 | |
| ENST00000378733.8:c.434_443del | ENSP00000368007.4:p.His145ProfsTer11 | |
| ENST00000425828.1:c.434_443del | ENSP00000400311.1:p.His145ProfsTer11 | |
| NM_001114748.1:c.434_443del | NP_001108220.1:p.His145ProfsTer11 | |
| NM_001114748.2:c.434_443del MANE Select | NP_001108220.1:p.His145ProfsTer11 |