Linked Data
dbSNP Id:
rs778144748
gnomAD v2:
12-22077993-ACAT-A
gnomAD v3:
12-21925059-ACAT-A
gnomAD v4:
12-21925059-ACAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21925063_21925065del , CM000674.2:g.21925063_21925065del | GRCh38 |
| NC_000012.11:g.22077997_22077999del , CM000674.1:g.22077997_22077999del | GRCh37 |
| NC_000012.10:g.21969264_21969266del | NCBI36 |
| NG_012819.1:g.16633_16635del , LRG_377:g.16633_16635del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.406+880_406+882del | ENSP00000261201.4:n.406+880_406+882del | |
| ENST00000621589.2:c.406+880_406+882del | ENSP00000480233.1:n.406+880_406+882del | |
| ENST00000682068.1:c.406+880_406+882del | ENSP00000507226.1:n.406+880_406+882del | |
| ENST00000682646.1:n.1542_1544del | ||
| ENST00000682789.1:n.657+880_657+882del | ||
| ENST00000682879.1:c.406+880_406+882del | ENSP00000508210.1:n.406+880_406+882del | |
| ENST00000683105.1:c.406+880_406+882del | ENSP00000506801.1:n.406+880_406+882del | |
| ENST00000683676.1:c.406+880_406+882del | ENSP00000508167.1:n.406+880_406+882del | |
| ENST00000684084.1:c.406+880_406+882del | ENSP00000507859.1:n.406+880_406+882del | |
| ENST00000684435.1:c.*794_*796del | ENSP00000507779.1:n.*794_*796del | |
| ENST00000684543.1:n.751+880_751+882del | ||
| ENST00000261200.9:c.406+880_406+882del MANE Select | ENSP00000261200.4:n.406+880_406+882del | |
| ENST00000261201.9:c.406+880_406+882del | ENSP00000261201.4:n.406+880_406+882del | |
| ENST00000636888.1:c.406+880_406+882del | ENSP00000490640.1:n.406+880_406+882del | |
| ENST00000261200.8:c.406+880_406+882del | ENSP00000261200.4:n.406+880_406+882del | |
| ENST00000261201.8:c.406+880_406+882del | ENSP00000261201.4:n.406+880_406+882del | |
| ENST00000326684.8:c.406+880_406+882del | ENSP00000317518.4:n.406+880_406+882del | |
| ENST00000538350.5:c.*391_*393del | ENSP00000442604.1:n.*391_*393del | |
| ENST00000621589.1:c.406+880_406+882del | ENSP00000480233.1:n.406+880_406+882del | |
| NM_005691.3:c.406+880_406+882del | NP_005682.2:n.406+880_406+882del | |
| NM_020297.3:c.406+880_406+882del | NP_064693.2:n.406+880_406+882del | |
| XM_005253284.2:c.406+880_406+882del | XP_005253341.1:n.406+880_406+882del | |
| XM_005253286.2:c.406+880_406+882del | XP_005253343.1:n.406+880_406+882del | |
| XM_005253287.3:c.406+880_406+882del | XP_005253344.1:n.406+880_406+882del | |
| XM_005253288.2:c.406+880_406+882del | XP_005253345.1:n.406+880_406+882del | |
| XM_005253289.2:c.406+880_406+882del | XP_005253346.1:n.406+880_406+882del | |
| XM_005253290.2:c.406+880_406+882del | XP_005253347.1:n.406+880_406+882del | |
| XM_006719025.2:c.406+880_406+882del | XP_006719088.1:n.406+880_406+882del | |
| XM_011520545.1:c.406+880_406+882del | XP_011518847.1:n.406+880_406+882del | |
| XM_005253284.4:c.406+880_406+882del | XP_005253341.1:n.406+880_406+882del | |
| XM_005253286.4:c.406+880_406+882del | XP_005253343.1:n.406+880_406+882del | |
| XM_005253287.5:c.406+880_406+882del | XP_005253344.1:n.406+880_406+882del | |
| XM_005253288.4:c.406+880_406+882del | XP_005253345.1:n.406+880_406+882del | |
| XM_005253289.4:c.406+880_406+882del | XP_005253346.1:n.406+880_406+882del | |
| XM_005253290.4:c.406+880_406+882del | XP_005253347.1:n.406+880_406+882del | |
| XM_006719025.4:c.406+880_406+882del | XP_006719088.1:n.406+880_406+882del | |
| XM_011520545.3:c.406+880_406+882del | XP_011518847.1:n.406+880_406+882del | |
| NM_001377273.1:c.406+880_406+882del | NP_001364202.1:n.406+880_406+882del | |
| NM_001377274.1:c.-49+880_-49+882del | NP_001364203.1:n.-49+880_-49+882del | |
| NM_005691.4:c.406+880_406+882del | NP_005682.2:n.406+880_406+882del | |
| NM_020297.4:c.406+880_406+882del MANE Select | NP_064693.2:n.406+880_406+882del |