Linked Data
dbSNP Id:
rs55898207
gnomAD v3:
1-11801923-C-CAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
1-11801923-C-CAAAAAAAAAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11801947_11801948insAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000663.2:g.11801947_11801948insAAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000001.10:g.11862004_11862005insAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000663.1:g.11862004_11862005insAAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000001.9:g.11784591_11784592insAAAAAAAAAAAAAAAAAAAAAAAAAA | NCBI36 |
| NG_008766.1:g.798_799insAAAAAAAAAAAAAAAAAAAAAAAAAA | |
| NG_013351.1:g.9180_9181insTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_726:g.9180_9181insTTTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000365669.3:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000376585.6:c.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000365770.1:n.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000376590.9:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000365775.3:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000376592.6:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000365777.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000423400.7:c.357-525_357-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000398908.3:n.357-525_357-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000431243.6:n.1018-508_1018-507insTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000641407.1:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000493098.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000641437.1:n.369-525_369-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000641446.1:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000493262.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000641721.1:n.294-525_294-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000641747.1:c.236+957_236+958insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000493116.1:n.236+957_236+958insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000641759.1:n.372-525_372-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000641805.1:n.520-525_520-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000641909.1:n.647-525_647-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000642002.1:n.466-508_466-507insTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000376583.7:c.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000365767.3:n.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000376585.5:c.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000365770.1:n.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000376590.7:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000365775.3:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000376592.5:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000365777.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000418034.1:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000405082.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_005957.4:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_726t1:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_005948.3:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XM_005263458.2:c.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005263515.1:n.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005263460.3:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005263517.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005263461.3:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005263518.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005263462.3:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005263519.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005263463.2:c.-27-508_-27-507insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005263520.1:n.-27-508_-27-507insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_011541495.1:c.357-525_357-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011539797.1:n.357-525_357-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_011541496.1:c.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011539798.1:n.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001330358.1:c.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001317287.1:n.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005263460.5:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005263517.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005263462.4:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005263519.1:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005263463.4:c.-27-508_-27-507insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005263520.1:n.-27-508_-27-507insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_011541495.3:c.357-525_357-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011539797.1:n.357-525_357-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_011541496.3:c.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011539798.1:n.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_017001328.2:c.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_016856817.1:n.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_024447198.1:c.-27-508_-27-507insTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_024302966.1:n.-27-508_-27-507insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XR_002956640.1:n.1104-525_1104-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_005957.5:c.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_005948.3:n.237-525_237-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_001330358.2:c.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001317287.1:n.360-525_360-524insTTTTTTTTTTTTTTTTTTTTTTTTTT... |