Linked Data
ClinVar Variation Id:
179983
dbSNP Id:
rs730880370
gnomAD v3:
12-21812063-G-GA
gnomAD v4:
12-21812063-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21812065dup , CM000674.2:g.21812065dup | GRCh38 |
| NC_000012.11:g.21964999dup , CM000674.1:g.21964999dup | GRCh37 |
| NC_000012.10:g.21856266dup | NCBI36 |
| NG_012819.1:g.129631dup , LRG_377:g.129631dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.4196dup | ENSP00000261201.4:p.Ser1400GlnfsTer5 | |
| ENST00000682426.1:n.1773dup | ||
| ENST00000682879.1:c.*3294dup | ENSP00000508210.1:n.*3294dup | |
| ENST00000683105.1:c.*220dup | ENSP00000506801.1:n.*220dup | |
| ENST00000683676.1:c.4196dup | ENSP00000508167.1:p.Ser1400GlnfsTer5 | |
| ENST00000683695.1:n.661dup | ||
| ENST00000684084.1:c.4145dup | ENSP00000507859.1:p.Ser1383GlnfsTer5 | |
| ENST00000261200.9:c.4196dup MANE Select | ENSP00000261200.4:p.Ser1400GlnfsTer5 | |
| ENST00000261201.9:c.4196dup | ENSP00000261201.4:p.Ser1400GlnfsTer5 | |
| ENST00000261200.8:c.4196dup | ENSP00000261200.4:p.Ser1400GlnfsTer5 | |
| ENST00000261201.8:c.4196dup | ENSP00000261201.4:p.Ser1400GlnfsTer5 | |
| ENST00000544039.5:c.3077dup | ENSP00000440521.1:p.Ser1027GlnfsTer5 | |
| NM_005691.3:c.4196dup | NP_005682.2:p.Ser1400GlnfsTer5 | |
| NM_020297.3:c.4196dup | NP_064693.2:p.Ser1400GlnfsTer5 | |
| XM_005253284.2:c.4196dup | XP_005253341.1:p.Ser1400GlnfsTer5 | |
| XM_005253286.2:c.4196dup | XP_005253343.1:p.Ser1400GlnfsTer5 | |
| XM_005253287.3:c.4196dup | XP_005253344.1:p.Ser1400GlnfsTer5 | |
| XM_005253288.2:c.4196dup | XP_005253345.1:p.Ser1400GlnfsTer5 | |
| XM_005253289.2:c.4157dup | XP_005253346.1:p.Ser1387GlnfsTer5 | |
| XM_005253290.2:c.4055dup | XP_005253347.1:p.Ser1353GlnfsTer5 | |
| XM_006719025.2:c.4157dup | XP_006719088.1:p.Ser1387GlnfsTer5 | |
| XM_011520545.1:c.4196dup | XP_011518847.1:p.Ser1400GlnfsTer5 | |
| XR_931420.1:n.632-15145dup | ||
| XR_931421.1:n.632-15145dup | ||
| XR_931422.1:n.306-15145dup | ||
| XM_005253284.4:c.4196dup | XP_005253341.1:p.Ser1400GlnfsTer5 | |
| XM_005253286.4:c.4196dup | XP_005253343.1:p.Ser1400GlnfsTer5 | |
| XM_005253287.5:c.4196dup | XP_005253344.1:p.Ser1400GlnfsTer5 | |
| XM_005253288.4:c.4196dup | XP_005253345.1:p.Ser1400GlnfsTer5 | |
| XM_005253289.4:c.4157dup | XP_005253346.1:p.Ser1387GlnfsTer5 | |
| XM_005253290.4:c.4055dup | XP_005253347.1:p.Ser1353GlnfsTer5 | |
| XM_006719025.4:c.4157dup | XP_006719088.1:p.Ser1387GlnfsTer5 | |
| XM_011520545.3:c.4196dup | XP_011518847.1:p.Ser1400GlnfsTer5 | |
| XR_931420.3:n.632-15145dup | ||
| XR_931422.2:n.318-15145dup | ||
| NM_001377273.1:c.4196dup | NP_001364202.1:p.Ser1400GlnfsTer5 | |
| NM_001377274.1:c.3329dup | NP_001364203.1:p.Ser1111GlnfsTer5 | |
| NM_005691.4:c.4196dup | NP_005682.2:p.Ser1400GlnfsTer5 | |
| NM_020297.4:c.4196dup MANE Select | NP_064693.2:p.Ser1400GlnfsTer5 |