Linked Data
gnomAD v4:
10-47350513-GTGGACTTGGAGTCTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350517_47350531del , CM000672.2:g.47350517_47350531del | GRCh38 |
| NC_000010.10:g.48388834_48388848del , CM000672.1:g.48388834_48388848del | GRCh37 |
| NC_000010.9:g.48008840_48008854del | NCBI36 |
| NG_029718.1:g.7147_7161del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2033_2047del MANE Select | ENSP00000463151.1:p.Asp678_Leu682del | |
| ENST00000584701.1:c.2033_2047del | ENSP00000463151.1:p.Asp678_Leu682del | |
| NM_002900.2:c.2033_2047del | NP_002891.1:p.Asp678_Leu682del | |
| NM_002900.3:c.2033_2047del MANE Select | NP_002891.1:p.Asp678_Leu682del |