Linked Data
gnomAD v4:
16-89919506-CGGACCTGCTGGTGAGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919510_89919526del , CM000678.2:g.89919510_89919526del | GRCh38 |
| NC_000016.9:g.89985918_89985934del , CM000678.1:g.89985918_89985934del | GRCh37 |
| NC_000016.8:g.88513419_88513435del | NCBI36 |
| NG_012026.1:g.6632_6648del | |
| NG_027810.1:g.2502_2518del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.252_268del MANE Select | ENSP00000451605.1:p.Asp84GlufsTer? | |
| ENST00000639847.1:c.252_268del | ENSP00000492011.1:p.Asp84GlufsTer? | |
| ENST00000555147.1:c.252_268del | ENSP00000451605.1:p.Asp84GlufsTer? | |
| ENST00000555427.1:c.252_268del | ENSP00000451760.1:p.Asp84GlufsTer? | |
| ENST00000556922.1:c.252_268del | ENSP00000451560.1:p.Asp84GlufsTer? | |
| NM_002386.3:c.252_268del | NP_002377.4:p.Asp84GlufsTer? | |
| NM_002386.4:c.252_268del MANE Select | NP_002377.4:p.Asp84GlufsTer? |