MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006827 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00007069 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124824016_124824017del , CM000669.2:g.124824016_124824017del | GRCh38 |
| NC_000007.13:g.124464070_124464071del , CM000669.1:g.124464070_124464071del | GRCh37 |
| NC_000007.12:g.124251306_124251307del | NCBI36 |
| NG_029232.1:g.110968_110969del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357628.8:c.1851_1852del MANE Select | ENSP00000350249.3:p.Asp617GlufsTer9 | |
| ENST00000430927.6:c.*205_*206del | ENSP00000397632.2:n.*205_*206del | |
| ENST00000653241.1:c.1851_1852del | ENSP00000499476.1:p.Asp617GlufsTer9 | |
| ENST00000653274.1:c.*230_*231del | ENSP00000499382.1:n.*230_*231del | |
| ENST00000653819.1:c.*1582_*1583del | ENSP00000499533.1:n.*1582_*1583del | |
| ENST00000653892.1:c.*1493_*1494del | ENSP00000499506.1:n.*1493_*1494del | |
| ENST00000654766.1:c.1626_1627del | ENSP00000499395.1:p.Asp542GlufsTer9 | |
| ENST00000655761.1:c.1851_1852del | ENSP00000499635.1:p.Asp617GlufsTer9 | |
| ENST00000657333.1:c.*1450_*1451del | ENSP00000499425.1:n.*1450_*1451del | |
| ENST00000657892.1:c.*1720_*1721del | ENSP00000499524.1:n.*1720_*1721del | |
| ENST00000661898.1:c.*315_*316del | ENSP00000499528.1:n.*315_*316del | |
| ENST00000662531.1:c.*1746_*1747del | ENSP00000499488.1:n.*1746_*1747del | |
| ENST00000664330.1:c.*1702_*1703del | ENSP00000499781.1:n.*1702_*1703del | |
| ENST00000664366.1:c.1851_1852del | ENSP00000499290.1:p.Asp617GlufsTer9 | |
| ENST00000668382.1:c.1851_1852del | ENSP00000499546.1:p.Asp617GlufsTer9 | |
| ENST00000357628.7:c.1851_1852del | ENSP00000350249.3:p.Asp617GlufsTer9 | |
| ENST00000393329.5:c.1458_1459del | ENSP00000377002.1:p.Asp486GlufsTer9 | |
| ENST00000430927.5:c.202_203del | ||
| ENST00000436534.5:c.346_347del | ||
| ENST00000607932.5:c.*205_*206del | ENSP00000476506.1:n.*205_*206del | |
| ENST00000608057.5:c.*948_*949del | ENSP00000476371.1:n.*948_*949del | |
| ENST00000609106.5:c.*121_*122del | ENSP00000476981.1:n.*121_*122del | |
| NM_001042594.1:c.1458_1459del | NP_001036059.1:p.Asp486GlufsTer9 | |
| NM_015450.2:c.1851_1852del | NP_056265.2:p.Asp617GlufsTer9 | |
| NR_003102.1:n.2572_2573del | ||
| NR_003103.1:n.2363_2364del | ||
| NR_003104.1:n.2549_2550del | ||
| XM_006715917.2:c.1851_1852del | XP_006715980.1:p.Asp617GlufsTer9 | |
| XM_011516006.1:c.1458_1459del | XP_011514308.1:p.Asp486GlufsTer9 | |
| XM_011516007.1:c.1458_1459del | XP_011514309.1:p.Asp486GlufsTer9 | |
| XM_006715917.4:c.1851_1852del | XP_006715980.1:p.Asp617GlufsTer9 | |
| XM_017011942.2:c.1458_1459del | XP_016867431.1:p.Asp486GlufsTer9 | |
| XR_001744618.1:n.2353_2354del | ||
| XR_001744619.2:n.2222_2223del | ||
| NM_015450.3:c.1851_1852del MANE Select | NP_056265.2:p.Asp617GlufsTer9 | |
| NM_001042594.2:c.1458_1459del | NP_001036059.1:p.Asp486GlufsTer9 | |
| NR_003102.2:n.2414_2415del | ||
| NR_003103.2:n.2205_2206del | ||
| NR_003104.2:n.2391_2392del |