Linked Data
gnomAD v2:
11-6412883-AGGT-A
gnomAD v3:
11-6391653-AGGT-A
gnomAD v4:
11-6391653-AGGT-A
MyVariant Identifiers:
chr11:g.6412884_6412886del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391655_6391657del , CM000673.2:g.6391655_6391657del | GRCh38 |
| NC_000011.9:g.6412885_6412887del , CM000673.1:g.6412885_6412887del | GRCh37 |
| NC_000011.8:g.6369461_6369463del | NCBI36 |
| NG_011780.1:g.6231_6233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.590_592del MANE Select | ENSP00000340409.4:p.Gly197del | |
| ENST00000342245.8:c.590_592del | ENSP00000340409.4:p.Gly197del | |
| ENST00000527275.5:c.587_589del | ENSP00000435350.1:p.Gly196del | |
| ENST00000530395.1:c.-95-135_-95-133del | ENSP00000431479.1:n.-95-135_-95-133del | |
| ENST00000531303.5:c.438+152_438+154del | ENSP00000432625.1:n.438+152_438+154del | |
| ENST00000533123.5:c.590_592del | ENSP00000435950.1:p.Gly197del | |
| ENST00000533196.1:n.375-351_375-349del | ||
| ENST00000534405.5:c.590_592del | ENSP00000434353.1:p.Gly197del | |
| NM_000543.4:c.590_592del | NP_000534.3:p.Gly197del | |
| NM_001007593.2:c.587_589del | NP_001007594.2:p.Gly196del | |
| XM_005253075.3:c.590_592del | XP_005253132.1:p.Gly197del | |
| XM_011520303.1:c.590_592del | XP_011518605.1:p.Gly197del | |
| XM_011520304.1:c.590_592del | XP_011518606.1:p.Gly197del | |
| XR_930886.1:n.888_890del | ||
| NM_001318087.1:c.590_592del | NP_001305016.1:p.Gly197del | |
| NM_001318088.1:c.-372_-370del | NP_001305017.1:n.-372_-370del | |
| NM_001365135.1:c.590_592del | NP_001352064.1:p.Gly197del | |
| NR_027400.2:n.775_777del | ||
| NR_134502.1:n.623+152_623+154del | ||
| XM_011520304.2:c.590_592del | XP_011518606.1:p.Gly197del | |
| XR_001747940.2:n.715_717del | ||
| XR_002957158.1:n.715_717del | ||
| NM_000543.5:c.590_592del MANE Select | NP_000534.3:p.Gly197del | |
| NM_001007593.3:c.587_589del | NP_001007594.2:p.Gly196del | |
| NM_001318087.2:c.590_592del | NP_001305016.1:p.Gly197del | |
| NM_001318088.2:c.-372_-370del | NP_001305017.1:n.-372_-370del | |
| NM_001365135.2:c.590_592del | NP_001352064.1:p.Gly197del | |
| NR_027400.3:n.715_717del | ||
| NR_134502.2:n.563+152_563+154del |