Linked Data
gnomAD v4:
10-47350632-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350637del , CM000672.2:g.47350637del | GRCh38 |
| NC_000010.10:g.48388729del , CM000672.1:g.48388729del | GRCh37 |
| NC_000010.9:g.48008735del | NCBI36 |
| NG_029718.1:g.7267del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2153del MANE Select | ENSP00000463151.1:p.Pro718LeufsTer? | |
| ENST00000584701.1:c.2153del | ENSP00000463151.1:p.Pro718LeufsTer? | |
| NM_002900.2:c.2153del | NP_002891.1:p.Pro718LeufsTer? | |
| NM_002900.3:c.2153del MANE Select | NP_002891.1:p.Pro718LeufsTer? |