Linked Data
dbSNP Id:
rs1555176120
ExAC:
12:21958185 C / CTA
gnomAD v2:
12-21958185-C-CTA
gnomAD v4:
12-21805251-C-CTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21805252_21805253dup , CM000674.2:g.21805252_21805253dup | GRCh38 |
| NC_000012.11:g.21958186_21958187dup , CM000674.1:g.21958186_21958187dup | GRCh37 |
| NC_000012.10:g.21849453_21849454dup | NCBI36 |
| NG_012819.1:g.136442_136443dup , LRG_377:g.136442_136443dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.4571_4572dup | ENSP00000261201.4:p.Val1525Ter | |
| ENST00000682426.1:n.2089+745_2089+746dup | ||
| ENST00000682879.1:c.*3610+745_*3610+746dup | ENSP00000508210.1:n.*3610+745_*3610+746dup | |
| ENST00000683105.1:c.*536+745_*536+746dup | ENSP00000506801.1:n.*536+745_*536+746dup | |
| ENST00000683676.1:c.4212-6115_4212-6114dup | ENSP00000508167.1:n.4212-6115_4212-6114dup | |
| ENST00000683695.1:n.977+745_977+746dup | ||
| ENST00000684084.1:c.4461+745_4461+746dup | ENSP00000507859.1:n.4461+745_4461+746dup | |
| ENST00000261200.9:c.4512+745_4512+746dup MANE Select | ENSP00000261200.4:n.4512+745_4512+746dup | |
| ENST00000261201.9:c.4571_4572dup | ENSP00000261201.4:p.Val1525Ter | |
| ENST00000261200.8:c.4512+745_4512+746dup | ENSP00000261200.4:n.4512+745_4512+746dup | |
| ENST00000261201.8:c.4571_4572dup | ENSP00000261201.4:p.Val1525Ter | |
| ENST00000544039.5:c.3452_3453dup | ENSP00000440521.1:p.Val1152Ter | |
| NM_005691.3:c.4571_4572dup | NP_005682.2:p.Val1525Ter | |
| NM_020297.3:c.4512+745_4512+746dup | NP_064693.2:n.4512+745_4512+746dup | |
| XM_005253284.2:c.4512+745_4512+746dup | XP_005253341.1:n.4512+745_4512+746dup | |
| XM_005253286.2:c.4512+745_4512+746dup | XP_005253343.1:n.4512+745_4512+746dup | |
| XM_005253287.3:c.4571_4572dup | XP_005253344.1:p.Val1525Ter | |
| XM_005253288.2:c.4512+745_4512+746dup | XP_005253345.1:n.4512+745_4512+746dup | |
| XM_005253289.2:c.4473+745_4473+746dup | XP_005253346.1:n.4473+745_4473+746dup | |
| XM_005253290.2:c.4371+745_4371+746dup | XP_005253347.1:n.4371+745_4371+746dup | |
| XM_006719025.2:c.4532_4533dup | XP_006719088.1:p.Val1512Ter | |
| XM_011520545.1:c.4512+745_4512+746dup | XP_011518847.1:n.4512+745_4512+746dup | |
| XR_931420.1:n.632-21958_632-21957dup | ||
| XR_931421.1:n.632-21958_632-21957dup | ||
| XR_931422.1:n.306-21958_306-21957dup | ||
| XM_005253284.4:c.4512+745_4512+746dup | XP_005253341.1:n.4512+745_4512+746dup | |
| XM_005253286.4:c.4512+745_4512+746dup | XP_005253343.1:n.4512+745_4512+746dup | |
| XM_005253287.5:c.4571_4572dup | XP_005253344.1:p.Val1525Ter | |
| XM_005253288.4:c.4512+745_4512+746dup | XP_005253345.1:n.4512+745_4512+746dup | |
| XM_005253289.4:c.4473+745_4473+746dup | XP_005253346.1:n.4473+745_4473+746dup | |
| XM_005253290.4:c.4371+745_4371+746dup | XP_005253347.1:n.4371+745_4371+746dup | |
| XM_006719025.4:c.4532_4533dup | XP_006719088.1:p.Val1512Ter | |
| XM_011520545.3:c.4512+745_4512+746dup | XP_011518847.1:n.4512+745_4512+746dup | |
| XR_931420.3:n.632-21958_632-21957dup | ||
| XR_931422.2:n.318-21958_318-21957dup | ||
| NM_001377273.1:c.4512+745_4512+746dup | NP_001364202.1:n.4512+745_4512+746dup | |
| NM_001377274.1:c.3645+745_3645+746dup | NP_001364203.1:n.3645+745_3645+746dup | |
| NM_005691.4:c.4571_4572dup | NP_005682.2:p.Val1525Ter | |
| NM_020297.4:c.4512+745_4512+746dup MANE Select | NP_064693.2:n.4512+745_4512+746dup |