Linked Data
gnomAD v4:
14-100883067-CTCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883073_100883075del , CM000676.2:g.100883073_100883075del | GRCh38 |
| NC_000014.8:g.101349410_101349412del , CM000676.1:g.101349410_101349412del | GRCh37 |
| NC_000014.7:g.100419163_100419165del | NCBI36 |
| NG_045001.1:g.6778_6780del | |
| NG_045000.5:g.51805_51807del | |
| NG_045000.6:g.51805_51807del | |
| NG_045001.2:g.25653_25655del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1719_1721del (RTL1) MANE Select | ENSP00000497482.1:p.Asp573del | |
| ENST00000534062.1:c.1719_1721del (RTL1) | ENSP00000435342.1:p.Asp573del | |
| NM_001134888.2:c.1719_1721del (RTL1) | NP_001128360.1:p.Asp573del | |
| NR_029696.1:n.95_97del (MIR127) | ||
| NM_001134888.3:c.1719_1721del (RTL1) MANE Select | NP_001128360.1:p.Asp573del |