Linked Data
dbSNP Id:
rs772484352
gnomAD v2:
6-24145964-AGGCACGTCCAT-A
gnomAD v4:
6-24145736-AGGCACGTCCAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145741_24145751del , CM000668.2:g.24145741_24145751del | GRCh38 |
| NC_000006.11:g.24145969_24145979del , CM000668.1:g.24145969_24145979del | GRCh37 |
| NC_000006.10:g.24253948_24253958del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.383_393del MANE Select | ENSP00000367752.4:p.Thr128ArgfsTer24 | |
| ENST00000378477.2:c.383_393del | ENSP00000367738.2:p.Thr128ArgfsTer24 | |
| ENST00000378478.5:c.383_393del | ENSP00000367739.2:p.Thr128ArgfsTer24 | |
| ENST00000378491.8:c.383_393del | ENSP00000367752.4:p.Thr128ArgfsTer24 | |
| ENST00000468195.2:n.257-9030_257-9020del | ||
| NM_080723.4:c.383_393del | NP_542454.3:p.Thr128ArgfsTer24 | |
| NM_080723.5:c.383_393del MANE Select | NP_542454.3:p.Thr128ArgfsTer24 |