Linked Data
ClinVar Variation Id:
6198
dbSNP Id:
rs587784343
gnomAD v3:
22-38113616-GACA-G
gnomAD v4:
22-38113616-GACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38113619_38113621del , CM000684.2:g.38113619_38113621del | GRCh38 |
| NC_000022.10:g.38509626_38509628del , CM000684.1:g.38509626_38509628del | GRCh37 |
| NC_000022.9:g.36839572_36839574del | NCBI36 |
| NG_007094.2:g.97072_97074del | |
| NG_033059.2:g.2051_2053del | |
| NG_007094.3:g.106160_106162del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332509.8:c.2070_2072del MANE Select | ENSP00000333142.3:p.Val691del | |
| ENST00000436218.6:c.*1268_*1270del | ENSP00000401242.1:n.*1268_*1270del | |
| ENST00000655142.1:c.*928_*930del | ENSP00000499715.1:n.*928_*930del | |
| ENST00000660610.1:c.2070_2072del | ENSP00000499555.1:p.Val691del | |
| ENST00000663895.1:c.2070_2072del | ENSP00000499712.1:p.Val691del | |
| ENST00000664587.1:c.1932_1934del | ENSP00000499394.1:p.Val645del | |
| ENST00000665987.1:c.*1809_*1811del | ENSP00000499423.1:n.*1809_*1811del | |
| ENST00000667521.1:c.2070_2072del | ENSP00000499665.1:p.Val691del | |
| ENST00000668499.1:c.*1929_*1931del | ENSP00000499626.1:n.*1929_*1931del | |
| ENST00000668949.1:c.2112_2114del | ENSP00000499711.1:p.Val705del | |
| ENST00000671093.1:n.2002_2004del | ||
| ENST00000673413.1:c.*1739_*1741del | ENSP00000500600.1:n.*1739_*1741del | |
| ENST00000332509.7:c.2070_2072del | ENSP00000333142.3:p.Val691del | |
| ENST00000335539.7:c.1908_1910del | ENSP00000335149.3:p.Val637del | |
| ENST00000402064.5:c.1908_1910del | ENSP00000386100.1:p.Val637del | |
| ENST00000496409.1:n.778_780del | ||
| NM_001004426.1:c.1908_1910del | NP_001004426.1:p.Val637del | |
| NM_001199562.1:c.1908_1910del | NP_001186491.1:p.Val637del | |
| NM_003560.2:c.2070_2072del | NP_003551.2:p.Val691del | |
| XM_005261764.1:c.2070_2072del | XP_005261821.1:p.Val691del | |
| XM_005261765.1:c.2070_2072del | XP_005261822.1:p.Val691del | |
| XM_005261766.1:c.2070_2072del | XP_005261823.1:p.Val691del | |
| XM_006724332.2:c.2070_2072del | XP_006724395.1:p.Val691del | |
| XM_011530422.1:c.1965_1967del | XP_011528724.1:p.Val656del | |
| XM_011530423.1:c.1536_1538del | XP_011528725.1:p.Val513del | |
| XM_011530424.1:c.1536_1538del | XP_011528726.1:p.Val513del | |
| XM_011530425.1:c.1536_1538del | XP_011528727.1:p.Val513del | |
| XR_244390.1:n.2346_2348del | ||
| XR_430411.1:n.2230_2232del | ||
| XR_937938.1:n.2432_2434del | ||
| NM_001004426.2:c.1908_1910del | NP_001004426.1:p.Val637del | |
| NM_001199562.2:c.1908_1910del | NP_001186491.1:p.Val637del | |
| NM_001349864.1:c.2070_2072del | NP_001336793.1:p.Val691del | |
| NM_001349865.1:c.1908_1910del | NP_001336794.1:p.Val637del | |
| NM_001349866.1:c.1908_1910del | NP_001336795.1:p.Val637del | |
| NM_001349867.1:c.1536_1538del | NP_001336796.1:p.Val513del | |
| NM_001349868.1:c.1392_1394del | NP_001336797.1:p.Val465del | |
| NM_001349869.1:c.1374_1376del | NP_001336798.1:p.Val459del | |
| NM_003560.3:c.2070_2072del | NP_003551.2:p.Val691del | |
| XM_005261764.3:c.2070_2072del | XP_005261821.1:p.Val691del | |
| XM_005261765.2:c.2070_2072del | XP_005261822.1:p.Val691del | |
| XM_006724332.4:c.2070_2072del | XP_006724395.1:p.Val691del | |
| XM_017028983.1:c.1374_1376del | XP_016884472.1:p.Val459del | |
| XM_024452280.1:c.1536_1538del | XP_024308048.1:p.Val513del | |
| XM_024452281.1:c.1536_1538del | XP_024308049.1:p.Val513del | |
| XM_024452282.1:c.1536_1538del | XP_024308050.1:p.Val513del | |
| XM_024452283.1:c.1392_1394del | XP_024308051.1:p.Val465del | |
| XM_024452284.1:c.1374_1376del | XP_024308052.1:p.Val459del | |
| XM_024452285.1:c.1374_1376del | XP_024308053.1:p.Val459del | |
| XR_001755325.2:n.2253_2255del | ||
| XR_001755327.2:n.2248_2250del | ||
| XR_001755328.2:n.2214_2216del | ||
| XR_244390.3:n.2330_2332del | ||
| XR_937938.3:n.2416_2418del | ||
| NM_001199562.3:c.1908_1910del | NP_001186491.1:p.Val637del | |
| NM_001349864.2:c.2070_2072del | NP_001336793.1:p.Val691del | |
| NM_001349865.2:c.1908_1910del | NP_001336794.1:p.Val637del | |
| NM_001349866.2:c.1908_1910del | NP_001336795.1:p.Val637del | |
| NM_001349867.2:c.1536_1538del | NP_001336796.1:p.Val513del | |
| NM_001349868.2:c.1392_1394del | NP_001336797.1:p.Val465del | |
| NM_001349869.2:c.1374_1376del | NP_001336798.1:p.Val459del | |
| NM_003560.4:c.2070_2072del MANE Select | NP_003551.2:p.Val691del | |
| NM_001004426.3:c.1908_1910del | NP_001004426.1:p.Val637del |