Linked Data
gnomAD v4:
15-74751829-ACAGAGGAAGATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751834_74751845del , CM000677.2:g.74751834_74751845del | GRCh38 |
| NC_000015.9:g.75044175_75044186del , CM000677.1:g.75044175_75044186del | GRCh37 |
| NC_000015.8:g.72831228_72831239del | NCBI36 |
| NG_008431.1:g.34293_34304del | |
| NG_008431.2:g.34293_34304del | |
| NG_061543.1:g.7990_8001del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1022_1033del MANE Select | ENSP00000342007.4:p.Arg341_Gln344del | |
| ENST00000343932.4:c.1022_1033del | ENSP00000342007.4:p.Arg341_Gln344del | |
| NM_000761.4:c.1022_1033del | NP_000752.2:p.Arg341_Gln344del | |
| NM_000761.5:c.1022_1033del MANE Select | NP_000752.2:p.Arg341_Gln344del |