Linked Data
gnomAD v4:
13-48045632-AAATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045633_48045636del , CM000675.2:g.48045633_48045636del | GRCh38 |
| NC_000013.10:g.48619769_48619772del , CM000675.1:g.48619769_48619772del | GRCh37 |
| NC_000013.9:g.47517770_47517773del | NCBI36 |
| NG_047021.1:g.13067_13070del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258662.3:c.356-27_356-24del MANE Select | ENSP00000258662.1:n.356-27_356-24del | |
| ENST00000258662.2:c.356-27_356-24del | ENSP00000258662.1:n.356-27_356-24del | |
| NM_018283.2:c.356-27_356-24del | NP_060753.1:n.356-27_356-24del | |
| NM_018283.3:c.356-27_356-24del | NP_060753.1:n.356-27_356-24del | |
| NR_136687.1:n.536-27_536-24del | ||
| NR_136688.1:n.536-27_536-24del | ||
| NM_018283.4:c.356-27_356-24del MANE Select | NP_060753.1:n.356-27_356-24del | |
| NR_136687.2:n.377-27_377-24del | ||
| NR_136688.2:n.377-27_377-24del |