Linked Data
gnomAD v4:
15-48497249-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48497252del , CM000677.2:g.48497252del | GRCh38 |
| NC_000015.9:g.48789449del , CM000677.1:g.48789449del | GRCh37 |
| NC_000015.8:g.46576741del | NCBI36 |
| NG_008805.2:g.153539del , LRG_778:g.153539del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.2293+16del | ENSP00000453958.2:n.2293+16del | |
| ENST00000674301.2:c.2293+16del | ENSP00000501333.2:n.2293+16del | |
| ENST00000684448.1:n.967+16del | ||
| ENST00000316623.10:c.2293+16del MANE Select | ENSP00000325527.5:n.2293+16del | |
| ENST00000316623.9:c.2293+16del | ENSP00000325527.5:n.2293+16del | |
| ENST00000537463.6:c.637-22600del | ENSP00000440294.2:n.637-22600del | |
| NM_000138.4:c.2293+16del , LRG_778t1:c.2293+16del | NP_000129.3:n.2293+16del | |
| NM_000138.5:c.2293+16del MANE Select | NP_000129.3:n.2293+16del |