Linked Data
dbSNP Id:
rs763304572
ExAC:
7:140500216 TCTG / T
gnomAD v2:
7-140500216-TCTG-T
gnomAD v4:
7-140800416-TCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140800419_140800421del , CM000669.2:g.140800419_140800421del | GRCh38 |
| NC_000007.13:g.140500219_140500221del , CM000669.1:g.140500219_140500221del | GRCh37 |
| NC_000007.12:g.140146688_140146690del | NCBI36 |
| NG_007873.3:g.129346_129348del , LRG_299:g.129346_129348del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.923_925del MANE Select | ENSP00000493543.1:p.Ala308del | |
| ENST00000288602.11:c.923_925del | ENSP00000288602.7:p.Ala308del | |
| ENST00000496384.7:c.923_925del | ENSP00000419060.2:p.Ala308del | |
| ENST00000497784.2:c.*373_*375del | ENSP00000420119.2:n.*373_*375del | |
| ENST00000642228.1:c.*1_*3del | ENSP00000493678.1:n.*1_*3del | |
| ENST00000642272.1:n.955_957del | ||
| ENST00000642875.1:n.417_419del | ||
| ENST00000644120.1:n.1365_1367del | ||
| ENST00000644650.1:c.19_21del | ||
| ENST00000644905.1:n.1012_1014del | ||
| ENST00000644969.2:c.923_925del MANE Plus Clinical | ENSP00000496776.1:p.Ala308del | |
| ENST00000646730.1:c.923_925del | ENSP00000494784.1:p.Ala308del | |
| ENST00000646891.1:c.923_925del | ENSP00000493543.1:p.Ala308del | |
| ENST00000288602.10:c.923_925del | ENSP00000288602.6:p.Ala308del | |
| ENST00000497784.1:c.958_960del | ENSP00000420119.1:n.958_960del | |
| NM_004333.4:c.923_925del , LRG_299t1:c.923_925del | NP_004324.2:p.Ala308del | |
| XM_005250045.1:c.923_925del | XP_005250102.1:p.Ala308del | |
| XM_005250046.1:c.923_925del | XP_005250103.1:p.Ala308del | |
| XM_011516529.1:c.923_925del | XP_011514831.1:p.Ala308del | |
| XM_011516530.1:c.923_925del | XP_011514832.1:p.Ala308del | |
| XR_242190.1:n.931_933del | ||
| XR_927520.1:n.931_933del | ||
| XR_927521.1:n.931_933del | ||
| XR_927522.1:n.931_933del | ||
| XR_927523.1:n.931_933del | ||
| NM_001354609.1:c.923_925del | NP_001341538.1:p.Ala308del | |
| NM_004333.5:c.923_925del | NP_004324.2:p.Ala308del | |
| NR_148928.1:n.1228_1230del | ||
| XM_017012558.1:c.923_925del | XP_016868047.1:p.Ala308del | |
| XM_017012559.1:c.923_925del | XP_016868048.1:p.Ala308del | |
| XR_001744857.1:n.931_933del | ||
| XR_001744858.1:n.931_933del | ||
| NM_001354609.2:c.923_925del | NP_001341538.1:p.Ala308del | |
| NM_001374244.1:c.923_925del | NP_001361173.1:p.Ala308del | |
| NM_001374258.1:c.923_925del MANE Plus Clinical | NP_001361187.1:p.Ala308del | |
| NM_004333.6:c.923_925del MANE Select | NP_004324.2:p.Ala308del | |
| NM_001378467.1:c.932_934del | NP_001365396.1:p.Ala311del | |
| NM_001378468.1:c.923_925del | NP_001365397.1:p.Ala308del | |
| NM_001378469.1:c.923_925del | NP_001365398.1:p.Ala308del | |
| NM_001378470.1:c.821_823del | NP_001365399.1:p.Ala274del | |
| NM_001378471.1:c.923_925del | NP_001365400.1:p.Ala308del | |
| NM_001378472.1:c.767_769del | NP_001365401.1:p.Ala256del | |
| NM_001378473.1:c.767_769del | NP_001365402.1:p.Ala256del | |
| NM_001378474.1:c.923_925del | NP_001365403.1:p.Ala308del | |
| NM_001378475.1:c.659_661del | NP_001365404.1:p.Ala220del |