Linked Data
ClinVar Variation Id:
285669
dbSNP Id:
rs886043172
gnomAD v2:
11-22291960-TG-T
gnomAD v3:
11-22270414-TG-T
gnomAD v4:
11-22270414-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22270417del , CM000673.2:g.22270417del | GRCh38 |
| NC_000011.9:g.22291963del , CM000673.1:g.22291963del | GRCh37 |
| NC_000011.8:g.22248539del | NCBI36 |
| NG_015844.1:g.82242del , LRG_868:g.82242del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000532043.2:n.21del | ||
| ENST00000682266.1:c.1554del | ENSP00000507766.1:p.Leu519PhefsTer6 | |
| ENST00000682341.1:c.1962del | ENSP00000508251.1:p.Leu655PhefsTer6 | |
| ENST00000683197.1:c.1962del | ENSP00000507641.1:p.Leu655PhefsTer6 | |
| ENST00000683411.1:c.1554del | ENSP00000508397.1:p.Leu519PhefsTer6 | |
| ENST00000683437.1:c.1554del | ENSP00000508408.1:p.Leu519PhefsTer6 | |
| ENST00000683613.1:n.2998del | ||
| ENST00000684663.1:c.1959del | ENSP00000508009.1:p.Leu654PhefsTer6 | |
| ENST00000324559.9:c.2004del MANE Select | ENSP00000315371.9:p.Leu669PhefsTer6 | |
| ENST00000648804.1:n.2339del | ||
| ENST00000324559.8:c.2004del | ENSP00000315371.8:p.Leu669PhefsTer6 | |
| ENST00000532043.1:n.21del | ||
| NM_001142649.1:c.2001del | NP_001136121.1:p.Leu668PhefsTer6 | |
| NM_213599.2:c.2004del , LRG_868t1:c.2004del | NP_998764.1:p.Leu669PhefsTer6 | |
| XM_005252820.2:c.1962del | XP_005252877.2:p.Leu655PhefsTer6 | |
| XM_005252821.2:c.1959del | XP_005252878.2:p.Leu654PhefsTer6 | |
| XM_005252822.3:c.1926del | XP_005252879.1:p.Leu643PhefsTer6 | |
| XM_005252823.3:c.1923del | XP_005252880.1:p.Leu642PhefsTer6 | |
| XM_011519949.1:c.1911del | XP_011518251.1:p.Leu638PhefsTer6 | |
| XM_005252820.3:c.1962del | XP_005252877.2:p.Leu655PhefsTer6 | |
| XM_005252821.3:c.1959del | XP_005252878.2:p.Leu654PhefsTer6 | |
| XM_005252822.4:c.1926del | XP_005252879.1:p.Leu643PhefsTer6 | |
| XM_011519949.2:c.1911del | XP_011518251.1:p.Leu638PhefsTer6 | |
| NM_001142649.2:c.2001del | NP_001136121.1:p.Leu668PhefsTer6 | |
| NM_213599.3:c.2004del MANE Select | NP_998764.1:p.Leu669PhefsTer6 |