Linked Data
gnomAD v4:
12-52675444-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675444_52675445insA , CM000674.2:g.52675444_52675445insA | GRCh38 |
| NC_000012.11:g.53069228_53069229insA , CM000674.1:g.53069228_53069229insA | GRCh37 |
| NC_000012.10:g.51355495_51355496insA | NCBI36 |
| NG_008364.1:g.9963_9964insT | |
| NG_008364.2:g.9963_9964insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1683_1684insT MANE Select | ENSP00000252244.3:p.Gly562TrpfsTer? | |
| NM_006121.3:c.1683_1684insT | NP_006112.3:p.Gly562TrpfsTer? | |
| NM_006121.4:c.1683_1684insT MANE Select | NP_006112.3:p.Gly562TrpfsTer? |