Linked Data
gnomAD v4:
15-74750304-ACAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750307_74750310del , CM000677.2:g.74750307_74750310del | GRCh38 |
| NC_000015.9:g.75042648_75042651del , CM000677.1:g.75042648_75042651del | GRCh37 |
| NC_000015.8:g.72829701_72829704del | NCBI36 |
| NG_008431.1:g.32766_32769del | |
| NG_008431.2:g.32766_32769del | |
| NG_061543.1:g.6463_6466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.569_572del MANE Select | ENSP00000342007.4:p.Asn190ArgfsTer30 | |
| ENST00000343932.4:c.569_572del | ENSP00000342007.4:p.Asn190ArgfsTer30 | |
| NM_000761.4:c.569_572del | NP_000752.2:p.Asn190ArgfsTer30 | |
| NM_000761.5:c.569_572del MANE Select | NP_000752.2:p.Asn190ArgfsTer30 |