Linked Data
gnomAD v4:
10-87713266-GCTGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87713275_87713279del , CM000672.2:g.87713275_87713279del | GRCh38 |
| NC_000010.10:g.89473032_89473036del , CM000672.1:g.89473032_89473036del | GRCh37 |
| NC_000010.9:g.89463012_89463016del | NCBI36 |
| NG_012150.1:g.58557_58561del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.346_350del MANE Select | ENSP00000406157.1:p.Val116HisfsTer13 | |
| ENST00000361175.8:c.346_350del | ENSP00000354436.4:p.Val116HisfsTer13 | |
| ENST00000456849.1:c.346_350del | ENSP00000406157.1:p.Val116HisfsTer13 | |
| ENST00000482258.1:n.389_393del | ||
| NM_001015880.1:c.346_350del | NP_001015880.1:p.Val116HisfsTer13 | |
| NM_004670.3:c.346_350del | NP_004661.2:p.Val116HisfsTer13 | |
| NM_001015880.2:c.346_350del MANE Select | NP_001015880.1:p.Val116HisfsTer13 | |
| NM_004670.4:c.346_350del | NP_004661.2:p.Val116HisfsTer13 |