Linked Data
gnomAD v4:
12-21176769-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176771del , CM000674.2:g.21176771del | GRCh38 |
| NC_000012.11:g.21329705del , CM000674.1:g.21329705del | GRCh37 |
| NC_000012.10:g.21220972del | NCBI36 |
| NG_011745.1:g.50578del , LRG_1022:g.50578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.360-5del MANE Select | ENSP00000256958.2:n.360-5del | |
| ENST00000256958.2:c.360-5del | ENSP00000256958.2:n.360-5del | |
| ENST00000543498.5:c.426-5del | ||
| NM_006446.4:c.360-5del , LRG_1022t1:c.360-5del | NP_006437.3:n.360-5del | |
| NM_006446.5:c.360-5del MANE Select | NP_006437.3:n.360-5del |