Linked Data
gnomAD v4:
12-52488566-TAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488571_52488573del , CM000674.2:g.52488571_52488573del | GRCh38 |
| NC_000012.11:g.52882355_52882357del , CM000674.1:g.52882355_52882357del | GRCh37 |
| NC_000012.10:g.51168622_51168624del | NCBI36 |
| NG_008298.1:g.9829_9831del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1204-21_1204-19del MANE Select | ENSP00000369317.3:n.1204-21_1204-19del | |
| ENST00000330722.6:c.1204-21_1204-19del | ENSP00000369317.3:n.1204-21_1204-19del | |
| NM_005554.3:c.1204-21_1204-19del | NP_005545.1:n.1204-21_1204-19del | |
| NM_005554.4:c.1204-21_1204-19del MANE Select | NP_005545.1:n.1204-21_1204-19del |