Linked Data
gnomAD v4:
12-57763701-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763702del , CM000674.2:g.57763702del | GRCh38 |
| NC_000012.11:g.58157485del , CM000674.1:g.58157485del | GRCh37 |
| NC_000012.10:g.56443752del | NCBI36 |
| NG_007076.1:g.8492del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1403del | ENSP00000518840.1:p.His468ProfsTer? | |
| ENST00000713545.1:c.*327del | ENSP00000518841.1:n.*327del | |
| ENST00000228606.9:c.1322del MANE Select | ENSP00000228606.4:p.His441ProfsTer? | |
| ENST00000228606.8:c.1322del | ENSP00000228606.4:p.His441ProfsTer? | |
| ENST00000547344.5:n.1461del | ||
| NM_000785.3:c.1322del | NP_000776.1:p.His441ProfsTer? | |
| NM_000785.4:c.1322del MANE Select | NP_000776.1:p.His441ProfsTer? |