Linked Data
gnomAD v4:
7-107779746-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107779749del , CM000669.2:g.107779749del | GRCh38 |
| NC_000007.13:g.107420194del , CM000669.1:g.107420194del | GRCh37 |
| NC_000007.12:g.107207430del | NCBI36 |
| NG_008046.1:g.28487del , LRG_683:g.28487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1328del MANE Select | ENSP00000345873.5:p.Leu443Ter | |
| ENST00000340010.9:c.1328del | ENSP00000345873.5:p.Leu443Ter | |
| ENST00000379083.7:c.*1119del | ENSP00000368375.3:n.*1119del | |
| NM_000111.2:c.1328del , LRG_683t1:c.1328del | NP_000102.1:p.Leu443Ter | |
| XM_011515867.1:c.1328del | XP_011514169.1:p.Leu443Ter | |
| NM_000111.3:c.1328del MANE Select | NP_000102.1:p.Leu443Ter |