Linked Data
dbSNP Id:
rs1304661695
gnomAD v2:
16-223525-AC-A
gnomAD v3:
16-173526-AC-A
gnomAD v4:
16-173526-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173530del , CM000678.2:g.173530del | GRCh38 |
| NC_000016.9:g.223529del , CM000678.1:g.223529del | GRCh37 |
| NC_000016.8:g.163529del | NCBI36 |
| NG_000006.1:g.34393del | |
| NG_059186.1:g.1880del | |
| NG_059271.1:g.5684del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.359del MANE Select | ENSP00000251595.6:p.Pro120LeufsTer14 | |
| ENST00000251595.10:c.359del | ENSP00000251595.6:p.Pro120LeufsTer14 | |
| ENST00000397806.1:c.263del | ENSP00000380908.1:p.Pro88LeufsTer14 | |
| ENST00000482565.1:n.495del | ||
| NM_000517.4:c.359del | NP_000508.1:p.Pro120LeufsTer14 | |
| NM_000517.6:c.359del MANE Select | NP_000508.1:p.Pro120LeufsTer14 |