ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75948398_75948401del , CM000679.2:g.75948398_75948401del | GRCh38 |
| NC_000017.10:g.73944479_73944482del , CM000679.1:g.73944479_73944482del | GRCh37 |
| NC_000017.9:g.71456074_71456077del | NCBI36 |
| NG_008190.1:g.35967_35970del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.1789_1792del | ENSP00000301608.4:p.Thr597Ter | |
| ENST00000293217.10:c.1789_1792del MANE Select | ENSP00000293217.4:p.Thr597Ter | |
| ENST00000293217.9:c.1789_1792del | ENSP00000293217.4:p.Thr597Ter | |
| ENST00000301608.8:c.1789_1792del | ENSP00000301608.4:p.Thr597Ter | |
| ENST00000572047.5:c.1963_1966del | ENSP00000459936.1:n.1963_1966del | |
| ENST00000573078.5:c.*1278_*1281del | ENSP00000458325.1:n.*1278_*1281del | |
| ENST00000587927.5:c.204_207del | ||
| ENST00000588968.5:c.243_246del | ||
| NM_001185039.1:c.1675_1678del | NP_001171968.1:p.Thr559Ter | |
| NM_004035.6:c.1789_1792del | NP_004026.2:p.Thr597Ter | |
| NM_007292.5:c.1789_1792del | NP_009223.2:p.Thr597Ter | |
| XM_011524868.1:c.1585_1588del | XP_011523170.1:p.Thr529Ter | |
| XM_011524869.1:c.1381_1384del | XP_011523171.1:p.Thr461Ter | |
| XM_011524868.3:c.1585_1588del | XP_011523170.1:p.Thr529Ter | |
| XM_011524869.3:c.1381_1384del | XP_011523171.1:p.Thr461Ter | |
| NM_004035.7:c.1789_1792del MANE Select | NP_004026.2:p.Thr597Ter | |
| NM_001185039.2:c.1675_1678del | NP_001171968.1:p.Thr559Ter | |
| NM_007292.6:c.1789_1792del | NP_009223.2:p.Thr597Ter |