Linked Data
gnomAD v4:
6-151618128-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151618131del , CM000668.2:g.151618131del | GRCh38 |
| NC_000006.11:g.151939266del , CM000668.1:g.151939266del | GRCh37 |
| NC_000006.10:g.151980959del | NCBI36 |
| NG_021198.1:g.129092del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.2132del MANE Select | ENSP00000239374.6:p.Leu711TyrfsTer11 | |
| ENST00000239374.7:c.2132del | ENSP00000239374.6:p.Leu711TyrfsTer11 | |
| NM_025059.3:c.2132del | NP_079335.2:p.Leu711TyrfsTer11 | |
| XM_011536147.1:c.2150del | XP_011534449.1:p.Leu717TyrfsTer11 | |
| XM_011536148.1:c.1949del | XP_011534450.1:p.Leu650TyrfsTer11 | |
| XM_011536147.2:c.2150del | XP_011534449.1:p.Leu717TyrfsTer11 | |
| XM_011536148.2:c.1949del | XP_011534450.1:p.Leu650TyrfsTer11 | |
| NM_025059.4:c.2132del MANE Select | NP_079335.2:p.Leu711TyrfsTer11 |