Linked Data
gnomAD v4:
12-5046067-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5046070_5046071del , CM000674.2:g.5046070_5046071del | GRCh38 |
| NC_000012.11:g.5155236_5155237del , CM000674.1:g.5155236_5155237del | GRCh37 |
| NC_000012.10:g.5025497_5025498del | NCBI36 |
| NG_012198.1:g.7152_7153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.*81_*82del MANE Select | ENSP00000252321.3:n.*81_*82del | |
| ENST00000252321.4:c.*81_*82del | ENSP00000252321.3:n.*81_*82del | |
| NM_002234.3:c.*81_*82del | NP_002225.2:n.*81_*82del | |
| NM_002234.4:c.*81_*82del MANE Select | NP_002225.2:n.*81_*82del |