gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000556 (AMR)
Exomes Max Group AF
0.00000748 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124825280_124825281del , CM000669.2:g.124825280_124825281del | GRCh38 |
| NC_000007.13:g.124465334_124465335del , CM000669.1:g.124465334_124465335del | GRCh37 |
| NC_000007.12:g.124252570_124252571del | NCBI36 |
| NG_029232.1:g.109705_109706del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357628.8:c.1765_1766del MANE Select | ENSP00000350249.3:p.Met589ValfsTer9 | |
| ENST00000430927.6:c.*119_*120del | ENSP00000397632.2:n.*119_*120del | |
| ENST00000653241.1:c.1765_1766del | ENSP00000499476.1:p.Met589ValfsTer9 | |
| ENST00000653274.1:c.*144_*145del | ENSP00000499382.1:n.*144_*145del | |
| ENST00000653819.1:c.*1496_*1497del | ENSP00000499533.1:n.*1496_*1497del | |
| ENST00000653892.1:c.*1407_*1408del | ENSP00000499506.1:n.*1407_*1408del | |
| ENST00000654766.1:c.1540_1541del | ENSP00000499395.1:p.Met514ValfsTer9 | |
| ENST00000655761.1:c.1765_1766del | ENSP00000499635.1:p.Met589ValfsTer9 | |
| ENST00000657333.1:c.*1364_*1365del | ENSP00000499425.1:n.*1364_*1365del | |
| ENST00000657892.1:c.*1634_*1635del | ENSP00000499524.1:n.*1634_*1635del | |
| ENST00000661898.1:c.*229_*230del | ENSP00000499528.1:n.*229_*230del | |
| ENST00000662531.1:c.*1660_*1661del | ENSP00000499488.1:n.*1660_*1661del | |
| ENST00000664330.1:c.*1616_*1617del | ENSP00000499781.1:n.*1616_*1617del | |
| ENST00000664366.1:c.1765_1766del | ENSP00000499290.1:p.Met589ValfsTer9 | |
| ENST00000668382.1:c.1765_1766del | ENSP00000499546.1:p.Met589ValfsTer9 | |
| ENST00000357628.7:c.1765_1766del | ENSP00000350249.3:p.Met589ValfsTer9 | |
| ENST00000393329.5:c.1372_1373del | ENSP00000377002.1:p.Met458ValfsTer9 | |
| ENST00000430927.5:c.116_117del | ||
| ENST00000436534.5:c.260_261del | ||
| ENST00000607932.5:c.*119_*120del | ENSP00000476506.1:n.*119_*120del | |
| ENST00000608057.5:c.*862_*863del | ENSP00000476371.1:n.*862_*863del | |
| ENST00000609106.5:c.*35_*36del | ENSP00000476981.1:n.*35_*36del | |
| NM_001042594.1:c.1372_1373del | NP_001036059.1:p.Met458ValfsTer9 | |
| NM_015450.2:c.1765_1766del | NP_056265.2:p.Met589ValfsTer9 | |
| NR_003102.1:n.2486_2487del | ||
| NR_003103.1:n.2277_2278del | ||
| NR_003104.1:n.2463_2464del | ||
| XM_006715917.2:c.1765_1766del | XP_006715980.1:p.Met589ValfsTer9 | |
| XM_011516006.1:c.1372_1373del | XP_011514308.1:p.Met458ValfsTer9 | |
| XM_011516007.1:c.1372_1373del | XP_011514309.1:p.Met458ValfsTer9 | |
| XM_006715917.4:c.1765_1766del | XP_006715980.1:p.Met589ValfsTer9 | |
| XM_017011942.2:c.1372_1373del | XP_016867431.1:p.Met458ValfsTer9 | |
| XR_001744618.1:n.2267_2268del | ||
| XR_001744619.2:n.2136_2137del | ||
| NM_015450.3:c.1765_1766del MANE Select | NP_056265.2:p.Met589ValfsTer9 | |
| NM_001042594.2:c.1372_1373del | NP_001036059.1:p.Met458ValfsTer9 | |
| NR_003102.2:n.2328_2329del | ||
| NR_003103.2:n.2119_2120del | ||
| NR_003104.2:n.2305_2306del |