Linked Data
gnomAD v4:
5-136046384-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046385del , CM000667.2:g.136046385del | GRCh38 |
| NC_000005.9:g.135382074del , CM000667.1:g.135382074del | GRCh37 |
| NC_000005.8:g.135409973del | NCBI36 |
| NG_012646.1:g.22491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.349del MANE Select | ENSP00000416330.2:p.Thr117ProfsTer12 | |
| ENST00000442011.6:c.349del | ENSP00000416330.2:p.Thr117ProfsTer12 | |
| ENST00000504185.5:n.506del | ||
| ENST00000506699.5:n.414del | ||
| ENST00000507018.5:c.266del | ||
| ENST00000515433.1:n.641del | ||
| NM_000358.2:c.349del | NP_000349.1:p.Thr117ProfsTer12 | |
| NM_000358.3:c.349del MANE Select | NP_000349.1:p.Thr117ProfsTer12 |