Linked Data
gnomAD v4:
5-96399006-AATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96399009_96399011del , CM000667.2:g.96399009_96399011del | GRCh38 |
| NC_000005.9:g.95734713_95734715del , CM000667.1:g.95734713_95734715del | GRCh37 |
| NC_000005.8:g.95760469_95760471del | NCBI36 |
| NG_021161.1:g.39273_39275del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.1458_1460del MANE Select | ENSP00000308024.2:p.Ile487del | |
| ENST00000311106.7:c.1458_1460del | ENSP00000308024.2:p.Ile487del | |
| ENST00000508626.5:c.1317_1319del | ENSP00000421600.1:p.Ile440del | |
| ENST00000513085.1:n.601_603del | ||
| NM_000439.4:c.1458_1460del | NP_000430.3:p.Ile487del | |
| NM_001177875.1:c.1317_1319del | NP_001171346.1:p.Ile440del | |
| NR_130776.1:n.354+19357_354+19359del | ||
| NM_000439.5:c.1458_1460del MANE Select | NP_000430.3:p.Ile487del | |
| NM_001177875.2:c.1317_1319del | NP_001171346.1:p.Ile440del |