Linked Data
dbSNP Id:
rs1293032432
gnomAD v2:
20-45355505-ACC-A
gnomAD v3:
20-46726866-ACC-A
gnomAD v4:
20-46726866-ACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46726867_46726868del , CM000682.2:g.46726867_46726868del | GRCh38 |
| NC_000020.10:g.45355506_45355507del , CM000682.1:g.45355506_45355507del | GRCh37 |
| NC_000020.9:g.44788913_44788914del | NCBI36 |
| NG_016284.1:g.22228_22229del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.1292_1293del MANE Select | ENSP00000352216.2:p.Thr431MetfsTer? | |
| ENST00000359271.3:c.1292_1293del | ENSP00000352216.2:p.Thr431MetfsTer? | |
| NM_030777.3:c.1292_1293del | NP_110404.1:p.Thr431MetfsTer? | |
| XM_011529060.1:c.1355_1356del | XP_011527362.1:p.Thr452MetfsTer? | |
| XM_011529061.1:c.1301_1302del | XP_011527363.1:p.Thr434MetfsTer? | |
| XM_011529062.1:c.1404_1405del | XP_011527364.1:p.Leu469GlyfsTer? | |
| XM_011529063.1:c.1355_1356del | XP_011527365.1:p.Thr452MetfsTer? | |
| XM_011529064.1:c.1404_1405del | XP_011527366.1:p.Leu469GlyfsTer? | |
| XM_011529065.1:c.1355_1356del | XP_011527367.1:p.Thr452MetfsTer? | |
| XR_936641.1:n.1540_1541del | ||
| XM_011529060.2:c.1355_1356del | XP_011527362.1:p.Thr452MetfsTer? | |
| XM_011529061.2:c.1301_1302del | XP_011527363.1:p.Thr434MetfsTer? | |
| XM_011529062.2:c.1404_1405del | XP_011527364.1:p.Leu469GlyfsTer? | |
| XM_011529063.2:c.1355_1356del | XP_011527365.1:p.Thr452MetfsTer? | |
| XM_011529064.2:c.1404_1405del | XP_011527366.1:p.Leu469GlyfsTer? | |
| XM_011529065.2:c.1355_1356del | XP_011527367.1:p.Thr452MetfsTer? | |
| XM_017028087.2:c.1292_1293del | XP_016883576.1:p.Thr431MetfsTer? | |
| XR_936641.2:n.1527_1528del | ||
| NM_030777.4:c.1292_1293del MANE Select | NP_110404.1:p.Thr431MetfsTer? |