Linked Data
gnomAD v4:
16-173146-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173146_173147insT , CM000678.2:g.173146_173147insT | GRCh38 |
| NC_000016.9:g.223145_223146insT , CM000678.1:g.223145_223146insT | GRCh37 |
| NC_000016.8:g.163145_163146insT | NCBI36 |
| NG_000006.1:g.34009_34010insT | |
| NG_059186.1:g.1496_1497insT | |
| NG_059271.1:g.5300_5301insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.117_118insT MANE Select | ENSP00000251595.6:p.Thr40TyrfsTer18 | |
| ENST00000251595.10:c.117_118insT | ENSP00000251595.6:p.Thr40TyrfsTer18 | |
| ENST00000397806.1:c.21_22insT | ENSP00000380908.1:p.Thr8TyrfsTer18 | |
| ENST00000482565.1:n.253_254insT | ||
| ENST00000484216.1:n.86_87insT | ||
| NM_000517.4:c.117_118insT | NP_000508.1:p.Thr40TyrfsTer18 | |
| NM_000517.6:c.117_118insT MANE Select | NP_000508.1:p.Thr40TyrfsTer18 |