Linked Data
gnomAD v4:
5-149981885-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981886_149981887del , CM000667.2:g.149981886_149981887del | GRCh38 |
| NC_000005.9:g.149361449_149361450del , CM000667.1:g.149361449_149361450del | GRCh37 |
| NC_000005.8:g.149341642_149341643del | NCBI36 |
| NG_007147.2:g.23004_23005del , LRG_684:g.23004_23005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.*73_*74del MANE Select | ENSP00000286298.4:n.*73_*74del | |
| ENST00000286298.4:c.*73_*74del | ENSP00000286298.4:n.*73_*74del | |
| ENST00000503336.1:c.372+3535_372+3536del | ENSP00000426053.1:n.372+3535_372+3536del | |
| NM_000112.3:c.*73_*74del , LRG_684t1:c.*73_*74del | NP_000103.2:n.*73_*74del | |
| XM_017009191.2:c.*13-43_*13-42del | XP_016864680.1:n.*13-43_*13-42del | |
| NM_000112.4:c.*73_*74del MANE Select | NP_000103.2:n.*73_*74del |