Linked Data
gnomAD v4:
12-5044745-ATACGCTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044749_5044756del , CM000674.2:g.5044749_5044756del | GRCh38 |
| NC_000012.11:g.5153915_5153922del , CM000674.1:g.5153915_5153922del | GRCh37 |
| NC_000012.10:g.5024176_5024183del | NCBI36 |
| NG_012198.1:g.5831_5838del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.602_609del MANE Select | ENSP00000252321.3:p.Arg201ProfsTer14 | |
| ENST00000252321.4:c.602_609del | ENSP00000252321.3:p.Arg201ProfsTer14 | |
| NM_002234.3:c.602_609del | NP_002225.2:p.Arg201ProfsTer14 | |
| NM_002234.4:c.602_609del MANE Select | NP_002225.2:p.Arg201ProfsTer14 |