HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74749769del , CM000677.2:g.74749769del | GRCh38 |
NC_000015.9:g.75042110del , CM000677.1:g.75042110del | GRCh37 |
NC_000015.8:g.72829163del | NCBI36 |
NG_008431.1:g.32228del | |
NG_008431.2:g.32228del | |
NG_061543.1:g.5925del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.31del MANE Select | ENSP00000342007.4:p.Ala11ProfsTer21 | |
ENST00000343932.4:c.31del | ENSP00000342007.4:p.Ala11ProfsTer21 | |
NM_000761.4:c.31del | NP_000752.2:p.Ala11ProfsTer21 | |
NM_000761.5:c.31del MANE Select | NP_000752.2:p.Ala11ProfsTer21 |