Linked Data
gnomAD v4:
3-81578009-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81578010del , CM000665.2:g.81578010del | GRCh38 |
| NC_000003.11:g.81627161del , CM000665.1:g.81627161del | GRCh37 |
| NC_000003.10:g.81709851del | NCBI36 |
| NG_011810.1:g.188791del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.1533del MANE Select | ENSP00000410833.2:p.Val512LeufsTer11 | |
| ENST00000429644.6:c.1533del | ENSP00000410833.2:p.Val512LeufsTer11 | |
| ENST00000489715.1:c.1410del | ENSP00000419638.1:p.Val471LeufsTer11 | |
| NM_000158.3:c.1533del | NP_000149.3:p.Val512LeufsTer11 | |
| NM_000158.4:c.1533del MANE Select | NP_000149.4:p.Val512LeufsTer11 |