Linked Data
dbSNP Id:
rs1218318262
gnomAD v2:
1-11855469-TC-T
gnomAD v3:
1-11795412-TC-T
gnomAD v4:
1-11795412-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11795417del , CM000663.2:g.11795417del | GRCh38 |
| NC_000001.10:g.11855474del , CM000663.1:g.11855474del | GRCh37 |
| NC_000001.9:g.11778061del | NCBI36 |
| NG_013351.1:g.15691del , LRG_726:g.15691del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.904-65del | ENSP00000365770.1:n.904-65del | |
| ENST00000376590.9:c.781-65del MANE Select | ENSP00000365775.3:n.781-65del | |
| ENST00000376592.6:c.781-65del | ENSP00000365777.1:n.781-65del | |
| ENST00000423400.7:c.901-65del | ENSP00000398908.3:n.901-65del | |
| ENST00000641407.1:c.781-65del | ENSP00000493098.1:n.781-65del | |
| ENST00000641446.1:c.781-65del | ENSP00000493262.1:n.781-65del | |
| ENST00000641721.1:n.644-65del | ||
| ENST00000641747.1:c.*293-65del | ENSP00000493116.1:n.*293-65del | |
| ENST00000641759.1:n.916-65del | ||
| ENST00000641805.1:n.1064-65del | ||
| ENST00000641820.1:c.46-65del | ENSP00000492937.1:n.46-65del | |
| ENST00000376583.7:c.904-65del | ENSP00000365767.3:n.904-65del | |
| ENST00000376585.5:c.904-65del | ENSP00000365770.1:n.904-65del | |
| ENST00000376590.7:c.781-65del | ENSP00000365775.3:n.781-65del | |
| ENST00000376592.5:c.781-65del | ENSP00000365777.1:n.781-65del | |
| NM_005957.4:c.781-65del , LRG_726t1:c.781-65del | NP_005948.3:n.781-65del | |
| XM_005263458.2:c.904-65del | XP_005263515.1:n.904-65del | |
| XM_005263460.3:c.781-65del | XP_005263517.1:n.781-65del | |
| XM_005263461.3:c.781-65del | XP_005263518.1:n.781-65del | |
| XM_005263462.3:c.781-65del | XP_005263519.1:n.781-65del | |
| XM_005263463.2:c.535-65del | XP_005263520.1:n.535-65del | |
| XM_011541495.1:c.901-65del | XP_011539797.1:n.901-65del | |
| XM_011541496.1:c.904-65del | XP_011539798.1:n.904-65del | |
| NM_001330358.1:c.904-65del | NP_001317287.1:n.904-65del | |
| XM_005263460.5:c.781-65del | XP_005263517.1:n.781-65del | |
| XM_005263462.4:c.781-65del | XP_005263519.1:n.781-65del | |
| XM_005263463.4:c.535-65del | XP_005263520.1:n.535-65del | |
| XM_011541495.3:c.901-65del | XP_011539797.1:n.901-65del | |
| XM_011541496.3:c.904-65del | XP_011539798.1:n.904-65del | |
| XM_017001328.2:c.904-65del | XP_016856817.1:n.904-65del | |
| XM_024447198.1:c.535-65del | XP_024302966.1:n.535-65del | |
| XR_002956640.1:n.1648-65del | ||
| NM_005957.5:c.781-65del MANE Select | NP_005948.3:n.781-65del | |
| NM_001330358.2:c.904-65del | NP_001317287.1:n.904-65del |