Linked Data
dbSNP Id:
rs2087469935
gnomAD v3:
22-38120648-A-AAGCGTGGGGCGCTCTTCCCCCTCC
gnomAD v4:
22-38120648-A-AAGCGTGGGGCGCTCTTCCCCCTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38120649_38120672dup , CM000684.2:g.38120649_38120672dup | GRCh38 |
| NC_000022.10:g.38516656_38516679dup , CM000684.1:g.38516656_38516679dup | GRCh37 |
| NC_000022.9:g.36846602_36846625dup | NCBI36 |
| NG_007094.2:g.90019_90042dup | |
| NG_007094.3:g.99107_99130dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.1742+87_1742+110dup MANE Select | ENSP00000333142.3:n.1742+87_1742+110dup | |
| ENST00000427114.6:c.1046+87_1046+110dup | ENSP00000407743.2:n.1046+87_1046+110dup | |
| ENST00000436218.6:c.*940+87_*940+110dup | ENSP00000401242.1:n.*940+87_*940+110dup | |
| ENST00000655142.1:c.*600+87_*600+110dup | ENSP00000499715.1:n.*600+87_*600+110dup | |
| ENST00000660610.1:c.1742+87_1742+110dup | ENSP00000499555.1:n.1742+87_1742+110dup | |
| ENST00000663895.1:c.1742+87_1742+110dup | ENSP00000499712.1:n.1742+87_1742+110dup | |
| ENST00000664587.1:c.1604+87_1604+110dup | ENSP00000499394.1:n.1604+87_1604+110dup | |
| ENST00000665987.1:c.*1481+87_*1481+110dup | ENSP00000499423.1:n.*1481+87_*1481+110dup | |
| ENST00000667521.1:c.1742+87_1742+110dup | ENSP00000499665.1:n.1742+87_1742+110dup | |
| ENST00000668208.1:n.1710+87_1710+110dup | ||
| ENST00000668499.1:c.*1464+87_*1464+110dup | ENSP00000499626.1:n.*1464+87_*1464+110dup | |
| ENST00000668949.1:c.1580+87_1580+110dup | ENSP00000499711.1:n.1580+87_1580+110dup | |
| ENST00000671093.1:n.1674+87_1674+110dup | ||
| ENST00000673413.1:c.*1411+87_*1411+110dup | ENSP00000500600.1:n.*1411+87_*1411+110dup | |
| ENST00000332509.7:c.1742+87_1742+110dup | ENSP00000333142.3:n.1742+87_1742+110dup | |
| ENST00000335539.7:c.1580+87_1580+110dup | ENSP00000335149.3:n.1580+87_1580+110dup | |
| ENST00000402064.5:c.1580+87_1580+110dup | ENSP00000386100.1:n.1580+87_1580+110dup | |
| ENST00000448094.5:c.*347+87_*347+110dup | ENSP00000407106.1:n.*347+87_*347+110dup | |
| ENST00000454670.1:c.387+87_387+110dup | ||
| ENST00000496409.1:n.282+87_282+110dup | ||
| NM_001004426.1:c.1580+87_1580+110dup | NP_001004426.1:n.1580+87_1580+110dup | |
| NM_001199562.1:c.1580+87_1580+110dup | NP_001186491.1:n.1580+87_1580+110dup | |
| NM_003560.2:c.1742+87_1742+110dup | NP_003551.2:n.1742+87_1742+110dup | |
| XM_005261764.1:c.1742+87_1742+110dup | XP_005261821.1:n.1742+87_1742+110dup | |
| XM_005261765.1:c.1742+87_1742+110dup | XP_005261822.1:n.1742+87_1742+110dup | |
| XM_005261766.1:c.1742+87_1742+110dup | XP_005261823.1:n.1742+87_1742+110dup | |
| XM_006724332.2:c.1742+87_1742+110dup | XP_006724395.1:n.1742+87_1742+110dup | |
| XM_011530422.1:c.1637+87_1637+110dup | XP_011528724.1:n.1637+87_1637+110dup | |
| XM_011530423.1:c.1208+87_1208+110dup | XP_011528725.1:n.1208+87_1208+110dup | |
| XM_011530424.1:c.1208+87_1208+110dup | XP_011528726.1:n.1208+87_1208+110dup | |
| XM_011530425.1:c.1208+87_1208+110dup | XP_011528727.1:n.1208+87_1208+110dup | |
| XM_011530426.1:c.1742+87_1742+110dup | XP_011528728.1:n.1742+87_1742+110dup | |
| XR_244390.1:n.1850+87_1850+110dup | ||
| XR_430411.1:n.1902+87_1902+110dup | ||
| XR_937937.1:n.1850+87_1850+110dup | ||
| XR_937938.1:n.1936+87_1936+110dup | ||
| XR_937939.1:n.1902+87_1902+110dup | ||
| NM_001004426.2:c.1580+87_1580+110dup | NP_001004426.1:n.1580+87_1580+110dup | |
| NM_001199562.2:c.1580+87_1580+110dup | NP_001186491.1:n.1580+87_1580+110dup | |
| NM_001349864.1:c.1742+87_1742+110dup | NP_001336793.1:n.1742+87_1742+110dup | |
| NM_001349865.1:c.1580+87_1580+110dup | NP_001336794.1:n.1580+87_1580+110dup | |
| NM_001349866.1:c.1580+87_1580+110dup | NP_001336795.1:n.1580+87_1580+110dup | |
| NM_001349867.1:c.1208+87_1208+110dup | NP_001336796.1:n.1208+87_1208+110dup | |
| NM_001349868.1:c.1064+87_1064+110dup | NP_001336797.1:n.1064+87_1064+110dup | |
| NM_001349869.1:c.1046+87_1046+110dup | NP_001336798.1:n.1046+87_1046+110dup | |
| NM_003560.3:c.1742+87_1742+110dup | NP_003551.2:n.1742+87_1742+110dup | |
| XM_005261764.3:c.1742+87_1742+110dup | XP_005261821.1:n.1742+87_1742+110dup | |
| XM_005261765.2:c.1742+87_1742+110dup | XP_005261822.1:n.1742+87_1742+110dup | |
| XM_006724332.4:c.1742+87_1742+110dup | XP_006724395.1:n.1742+87_1742+110dup | |
| XM_011530426.3:c.1742+87_1742+110dup | XP_011528728.1:n.1742+87_1742+110dup | |
| XM_017028983.1:c.1046+87_1046+110dup | XP_016884472.1:n.1046+87_1046+110dup | |
| XM_017028986.2:c.1580+87_1580+110dup | XP_016884475.1:n.1580+87_1580+110dup | |
| XM_024452280.1:c.1208+87_1208+110dup | XP_024308048.1:n.1208+87_1208+110dup | |
| XM_024452281.1:c.1208+87_1208+110dup | XP_024308049.1:n.1208+87_1208+110dup | |
| XM_024452282.1:c.1208+87_1208+110dup | XP_024308050.1:n.1208+87_1208+110dup | |
| XM_024452283.1:c.1064+87_1064+110dup | XP_024308051.1:n.1064+87_1064+110dup | |
| XM_024452284.1:c.1046+87_1046+110dup | XP_024308052.1:n.1046+87_1046+110dup | |
| XM_024452285.1:c.1046+87_1046+110dup | XP_024308053.1:n.1046+87_1046+110dup | |
| XR_001755325.2:n.1834+87_1834+110dup | ||
| XR_001755327.2:n.1920+87_1920+110dup | ||
| XR_001755328.2:n.1886+87_1886+110dup | ||
| XR_244390.3:n.1834+87_1834+110dup | ||
| XR_937938.3:n.1920+87_1920+110dup | ||
| XR_937939.3:n.1886+87_1886+110dup | ||
| NM_001199562.3:c.1580+87_1580+110dup | NP_001186491.1:n.1580+87_1580+110dup | |
| NM_001349864.2:c.1742+87_1742+110dup | NP_001336793.1:n.1742+87_1742+110dup | |
| NM_001349865.2:c.1580+87_1580+110dup | NP_001336794.1:n.1580+87_1580+110dup | |
| NM_001349866.2:c.1580+87_1580+110dup | NP_001336795.1:n.1580+87_1580+110dup | |
| NM_001349867.2:c.1208+87_1208+110dup | NP_001336796.1:n.1208+87_1208+110dup | |
| NM_001349868.2:c.1064+87_1064+110dup | NP_001336797.1:n.1064+87_1064+110dup | |
| NM_001349869.2:c.1046+87_1046+110dup | NP_001336798.1:n.1046+87_1046+110dup | |
| NM_003560.4:c.1742+87_1742+110dup MANE Select | NP_003551.2:n.1742+87_1742+110dup | |
| NM_001004426.3:c.1580+87_1580+110dup | NP_001004426.1:n.1580+87_1580+110dup |