Linked Data
gnomAD v4:
12-21176803-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176804_21176805del , CM000674.2:g.21176804_21176805del | GRCh38 |
| NC_000012.11:g.21329738_21329739del , CM000674.1:g.21329738_21329739del | GRCh37 |
| NC_000012.10:g.21221005_21221006del | NCBI36 |
| NG_011745.1:g.50611_50612del , LRG_1022:g.50611_50612del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.388_389del MANE Select | ENSP00000256958.2:p.Asn130PhefsTer15 | |
| ENST00000256958.2:c.388_389del | ENSP00000256958.2:p.Asn130PhefsTer15 | |
| ENST00000543498.5:c.454_455del | ||
| NM_006446.4:c.388_389del , LRG_1022t1:c.388_389del | NP_006437.3:p.Asn130PhefsTer15 | |
| NM_006446.5:c.388_389del MANE Select | NP_006437.3:p.Asn130PhefsTer15 |