Linked Data
dbSNP Id:
rs753806321
ExAC:
20:31024499 GA / G
gnomAD v2:
20-31024499-GA-G
gnomAD v4:
20-32436696-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436697del , CM000682.2:g.32436697del | GRCh38 |
| NC_000020.10:g.31024500del , CM000682.1:g.31024500del | GRCh37 |
| NC_000020.9:g.30488161del | NCBI36 |
| NG_027868.1:g.83354del , LRG_630:g.83354del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3985del MANE Select | ENSP00000364839.4:p.Ile1329SerfsTer? | |
| ENST00000646985.1:c.3802del | ENSP00000495053.1:p.Ile1268SerfsTer? | |
| ENST00000647223.1:n.6338del | ||
| ENST00000651418.1:c.1870-1733del | ENSP00000499150.1:n.1870-1733del | |
| ENST00000306058.9:c.3970del | ENSP00000305119.5:p.Ile1324SerfsTer? | |
| ENST00000375687.8:c.3985del | ENSP00000364839.4:p.Ile1329SerfsTer? | |
| ENST00000613218.4:c.3985del | ENSP00000480487.1:p.Ile1329SerfsTer? | |
| ENST00000620121.4:c.3985del | ENSP00000481978.1:p.Ile1329SerfsTer? | |
| NM_015338.5:c.3985del , LRG_630t1:c.3985del | NP_056153.2:p.Ile1329SerfsTer? | |
| XM_006723727.2:c.3982del | XP_006723790.1:p.Ile1328SerfsTer? | |
| XM_006723728.2:c.3955del | XP_006723791.1:p.Ile1319SerfsTer? | |
| XM_006723730.2:c.3901del | XP_006723793.1:p.Ile1301SerfsTer? | |
| XM_006723732.2:c.3802del | XP_006723795.1:p.Ile1268SerfsTer? | |
| XM_006723733.1:c.3301del | XP_006723796.1:p.Ile1101SerfsTer? | |
| XM_011528647.1:c.4249del | XP_011526949.1:p.Ile1417SerfsTer? | |
| XM_011528648.1:c.4246del | XP_011526950.1:p.Ile1416SerfsTer? | |
| XM_011528649.1:c.4165del | XP_011526951.1:p.Ile1389SerfsTer? | |
| XM_011528650.1:c.4096del | XP_011526952.1:p.Ile1366SerfsTer? | |
| XM_011528651.1:c.3964del | XP_011526953.1:p.Ile1322SerfsTer? | |
| XM_011528652.1:c.3901del | XP_011526954.1:p.Ile1301SerfsTer? | |
| NM_001363734.1:c.3802del | NP_001350663.1:p.Ile1268SerfsTer? | |
| XM_006723727.3:c.3982del | XP_006723790.1:p.Ile1328SerfsTer? | |
| XM_006723728.3:c.3955del | XP_006723791.1:p.Ile1319SerfsTer? | |
| XM_006723730.4:c.3901del | XP_006723793.1:p.Ile1301SerfsTer? | |
| XM_011528648.3:c.4246del | XP_011526950.1:p.Ile1416SerfsTer? | |
| XM_011528652.2:c.3901del | XP_011526954.1:p.Ile1301SerfsTer? | |
| XM_017027704.1:c.3901del | XP_016883193.1:p.Ile1301SerfsTer? | |
| XM_017027705.1:c.3901del | XP_016883194.1:p.Ile1301SerfsTer? | |
| XM_017027706.1:c.3832del | XP_016883195.1:p.Ile1278SerfsTer? | |
| NM_015338.6:c.3985del MANE Select | NP_056153.2:p.Ile1329SerfsTer? |