Linked Data
gnomAD v2:
20-31024480-CGA-C
gnomAD v4:
20-32436677-CGA-C
MyVariant Identifiers:
chr20:g.31024481_31024482del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436678_32436679del , CM000682.2:g.32436678_32436679del | GRCh38 |
| NC_000020.10:g.31024481_31024482del , CM000682.1:g.31024481_31024482del | GRCh37 |
| NC_000020.9:g.30488142_30488143del | NCBI36 |
| NG_027868.1:g.83335_83336del , LRG_630:g.83335_83336del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3966_3967del MANE Select | ENSP00000364839.4:p.Met1323AlafsTer5 | |
| ENST00000646985.1:c.3783_3784del | ENSP00000495053.1:p.Met1262AlafsTer5 | |
| ENST00000647223.1:n.6319_6320del | ||
| ENST00000651418.1:c.1870-1752_1870-1751del | ENSP00000499150.1:n.1870-1752_1870-1751del | |
| ENST00000306058.9:c.3951_3952del | ENSP00000305119.5:p.Met1318AlafsTer5 | |
| ENST00000375687.8:c.3966_3967del | ENSP00000364839.4:p.Met1323AlafsTer5 | |
| ENST00000613218.4:c.3966_3967del | ENSP00000480487.1:p.Met1323AlafsTer5 | |
| ENST00000620121.4:c.3966_3967del | ENSP00000481978.1:p.Met1323AlafsTer5 | |
| NM_015338.5:c.3966_3967del , LRG_630t1:c.3966_3967del | NP_056153.2:p.Met1323AlafsTer5 | |
| XM_006723727.2:c.3963_3964del | XP_006723790.1:p.Met1322AlafsTer5 | |
| XM_006723728.2:c.3936_3937del | XP_006723791.1:p.Met1313AlafsTer5 | |
| XM_006723730.2:c.3882_3883del | XP_006723793.1:p.Met1295AlafsTer5 | |
| XM_006723732.2:c.3783_3784del | XP_006723795.1:p.Met1262AlafsTer5 | |
| XM_006723733.1:c.3282_3283del | XP_006723796.1:p.Met1095AlafsTer5 | |
| XM_011528647.1:c.4230_4231del | XP_011526949.1:p.Met1411AlafsTer5 | |
| XM_011528648.1:c.4227_4228del | XP_011526950.1:p.Met1410AlafsTer5 | |
| XM_011528649.1:c.4146_4147del | XP_011526951.1:p.Met1383AlafsTer5 | |
| XM_011528650.1:c.4077_4078del | XP_011526952.1:p.Met1360AlafsTer5 | |
| XM_011528651.1:c.3945_3946del | XP_011526953.1:p.Met1316AlafsTer5 | |
| XM_011528652.1:c.3882_3883del | XP_011526954.1:p.Met1295AlafsTer5 | |
| NM_001363734.1:c.3783_3784del | NP_001350663.1:p.Met1262AlafsTer5 | |
| XM_006723727.3:c.3963_3964del | XP_006723790.1:p.Met1322AlafsTer5 | |
| XM_006723728.3:c.3936_3937del | XP_006723791.1:p.Met1313AlafsTer5 | |
| XM_006723730.4:c.3882_3883del | XP_006723793.1:p.Met1295AlafsTer5 | |
| XM_011528648.3:c.4227_4228del | XP_011526950.1:p.Met1410AlafsTer5 | |
| XM_011528652.2:c.3882_3883del | XP_011526954.1:p.Met1295AlafsTer5 | |
| XM_017027704.1:c.3882_3883del | XP_016883193.1:p.Met1295AlafsTer5 | |
| XM_017027705.1:c.3882_3883del | XP_016883194.1:p.Met1295AlafsTer5 | |
| XM_017027706.1:c.3813_3814del | XP_016883195.1:p.Met1272AlafsTer5 | |
| NM_015338.6:c.3966_3967del MANE Select | NP_056153.2:p.Met1323AlafsTer5 |