Linked Data
gnomAD v4:
12-57763698-TGGGTGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763706_57763712del , CM000674.2:g.57763706_57763712del | GRCh38 |
| NC_000012.11:g.58157489_58157495del , CM000674.1:g.58157489_58157495del | GRCh37 |
| NC_000012.10:g.56443756_56443762del | NCBI36 |
| NG_007076.1:g.8489_8495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1400_1406del | ENSP00000518840.1:p.Pro467HisfsTer? | |
| ENST00000713545.1:c.*324_*330del | ENSP00000518841.1:n.*324_*330del | |
| ENST00000228606.9:c.1319_1325del MANE Select | ENSP00000228606.4:p.Pro440HisfsTer? | |
| ENST00000228606.8:c.1319_1325del | ENSP00000228606.4:p.Pro440HisfsTer? | |
| ENST00000547344.5:n.1458_1464del | ||
| NM_000785.3:c.1319_1325del | NP_000776.1:p.Pro440HisfsTer? | |
| NM_000785.4:c.1319_1325del MANE Select | NP_000776.1:p.Pro440HisfsTer? |