Linked Data
dbSNP Id:
rs1435834838
gnomAD v2:
11-6412882-CAGGTG-C
gnomAD v3:
11-6391652-CAGGTG-C
gnomAD v4:
11-6391652-CAGGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391653_6391657del , CM000673.2:g.6391653_6391657del | GRCh38 |
| NC_000011.9:g.6412883_6412887del , CM000673.1:g.6412883_6412887del | GRCh37 |
| NC_000011.8:g.6369459_6369463del | NCBI36 |
| NG_011780.1:g.6229_6233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.588_592del MANE Select | ENSP00000340409.4:p.Gly197ProfsTer10 | |
| ENST00000342245.8:c.588_592del | ENSP00000340409.4:p.Gly197ProfsTer10 | |
| ENST00000527275.5:c.585_589del | ENSP00000435350.1:p.Gly196ProfsTer10 | |
| ENST00000530395.1:c.-95-137_-95-133del | ENSP00000431479.1:n.-95-137_-95-133del | |
| ENST00000531303.5:c.438+150_438+154del | ENSP00000432625.1:n.438+150_438+154del | |
| ENST00000533123.5:c.588_592del | ENSP00000435950.1:p.Gly197ProfsTer10 | |
| ENST00000533196.1:n.375-353_375-349del | ||
| ENST00000534405.5:c.588_592del | ENSP00000434353.1:p.Gly197ProfsTer10 | |
| NM_000543.4:c.588_592del | NP_000534.3:p.Gly197ProfsTer10 | |
| NM_001007593.2:c.585_589del | NP_001007594.2:p.Gly196ProfsTer10 | |
| XM_005253075.3:c.588_592del | XP_005253132.1:p.Gly197ProfsTer10 | |
| XM_011520303.1:c.588_592del | XP_011518605.1:p.Gly197ProfsTer10 | |
| XM_011520304.1:c.588_592del | XP_011518606.1:p.Gly197ProfsTer10 | |
| XR_930886.1:n.886_890del | ||
| NM_001318087.1:c.588_592del | NP_001305016.1:p.Gly197ProfsTer10 | |
| NM_001318088.1:c.-374_-370del | NP_001305017.1:n.-374_-370del | |
| NM_001365135.1:c.588_592del | NP_001352064.1:p.Gly197ProfsTer10 | |
| NR_027400.2:n.773_777del | ||
| NR_134502.1:n.623+150_623+154del | ||
| XM_011520304.2:c.588_592del | XP_011518606.1:p.Gly197ProfsTer10 | |
| XR_001747940.2:n.713_717del | ||
| XR_002957158.1:n.713_717del | ||
| NM_000543.5:c.588_592del MANE Select | NP_000534.3:p.Gly197ProfsTer10 | |
| NM_001007593.3:c.585_589del | NP_001007594.2:p.Gly196ProfsTer10 | |
| NM_001318087.2:c.588_592del | NP_001305016.1:p.Gly197ProfsTer10 | |
| NM_001318088.2:c.-374_-370del | NP_001305017.1:n.-374_-370del | |
| NM_001365135.2:c.588_592del | NP_001352064.1:p.Gly197ProfsTer10 | |
| NR_027400.3:n.713_717del | ||
| NR_134502.2:n.563+150_563+154del |