Linked Data
dbSNP Id:
rs890803745
gnomAD v2:
1-76211361-ATTAT-A
gnomAD v3:
1-75745676-ATTAT-A
gnomAD v4:
1-75745676-ATTAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75745683_75745686del , CM000663.2:g.75745683_75745686del | GRCh38 |
| NC_000001.10:g.76211368_76211371del , CM000663.1:g.76211368_76211371del | GRCh37 |
| NC_000001.9:g.75983956_75983959del | NCBI36 |
| NG_007045.2:g.26326_26329del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.600-123_600-120del MANE Select | ENSP00000359878.5:n.600-123_600-120del | |
| ENST00000473018.3:n.2724-123_2724-120del | ||
| ENST00000532207.6:n.1366_1369del | ||
| ENST00000541113.6:c.600-123_600-120del | ENSP00000442324.2:n.600-123_600-120del | |
| ENST00000679509.1:n.1562-123_1562-120del | ||
| ENST00000679530.1:c.*368-123_*368-120del | ENSP00000506454.1:n.*368-123_*368-120del | |
| ENST00000679615.1:n.2724-3736_2724-3733del | ||
| ENST00000679687.1:c.162-123_162-120del | ENSP00000506598.1:n.162-123_162-120del | |
| ENST00000679704.1:c.*366-123_*366-120del | ENSP00000505117.1:n.*366-123_*366-120del | |
| ENST00000679709.1:c.*563-123_*563-120del | ENSP00000506623.1:n.*563-123_*563-120del | |
| ENST00000679976.1:c.*184-123_*184-120del | ENSP00000505565.1:n.*184-123_*184-120del | |
| ENST00000680166.1:n.3889-123_3889-120del | ||
| ENST00000680517.1:c.*97-3736_*97-3733del | ENSP00000505803.1:n.*97-3736_*97-3733del | |
| ENST00000680582.1:n.1562-123_1562-120del | ||
| ENST00000680613.1:c.600-152_600-149del | ENSP00000506114.1:n.600-152_600-149del | |
| ENST00000680662.1:c.*514-123_*514-120del | ENSP00000505080.1:n.*514-123_*514-120del | |
| ENST00000680691.1:c.*263-123_*263-120del | ENSP00000506487.1:n.*263-123_*263-120del | |
| ENST00000680694.1:c.*188-123_*188-120del | ENSP00000505658.1:n.*188-123_*188-120del | |
| ENST00000680743.1:c.*267-123_*267-120del | ENSP00000505073.1:n.*267-123_*267-120del | |
| ENST00000680749.1:c.600-3736_600-3733del | ENSP00000505122.1:n.600-3736_600-3733del | |
| ENST00000680798.1:c.*184-3736_*184-3733del | ENSP00000505670.1:n.*184-3736_*184-3733del | |
| ENST00000680805.1:c.600-123_600-120del | ENSP00000505447.1:n.600-123_600-120del | |
| ENST00000680844.1:c.*384-123_*384-120del | ENSP00000506541.1:n.*384-123_*384-120del | |
| ENST00000680948.1:c.*467-123_*467-120del | ENSP00000505441.1:n.*467-123_*467-120del | |
| ENST00000680964.1:c.600-123_600-120del | ENSP00000505961.1:n.600-123_600-120del | |
| ENST00000681037.1:c.*2113-152_*2113-149del | ENSP00000506025.1:n.*2113-152_*2113-149del | |
| ENST00000681063.1:c.600-4768_600-4765del | ENSP00000506616.1:n.600-4768_600-4765del | |
| ENST00000681209.1:c.*364-3736_*364-3733del | ENSP00000505877.1:n.*364-3736_*364-3733del | |
| ENST00000681278.1:n.957-123_957-120del | ||
| ENST00000681289.1:n.4472_4475del | ||
| ENST00000681361.1:c.*267-123_*267-120del | ENSP00000506679.1:n.*267-123_*267-120del | |
| ENST00000681430.1:c.600-123_600-120del | ENSP00000506301.1:n.600-123_600-120del | |
| ENST00000681446.1:c.*182-123_*182-120del | ENSP00000506244.1:n.*182-123_*182-120del | |
| ENST00000681450.1:c.*271-123_*271-120del | ENSP00000505660.1:n.*271-123_*271-120del | |
| ENST00000681548.1:c.*186-123_*186-120del | ENSP00000505275.1:n.*186-123_*186-120del | |
| ENST00000681616.1:c.*368-3736_*368-3733del | ENSP00000505111.1:n.*368-3736_*368-3733del | |
| ENST00000681621.1:c.*184-123_*184-120del | ENSP00000505770.1:n.*184-123_*184-120del | |
| ENST00000681680.1:n.2724-152_2724-149del | ||
| ENST00000681720.1:c.*55-123_*55-120del | ENSP00000505438.1:n.*55-123_*55-120del | |
| ENST00000681730.1:n.822-123_822-120del | ||
| ENST00000681790.1:c.342-123_342-120del | ENSP00000505130.1:n.342-123_342-120del | |
| ENST00000681837.1:n.1216-123_1216-120del | ||
| ENST00000681913.1:n.2724-123_2724-120del | ||
| ENST00000681916.1:c.*368-123_*368-120del | ENSP00000506477.1:n.*368-123_*368-120del | |
| ENST00000681930.1:n.2724-123_2724-120del | ||
| ENST00000370834.9:c.699-123_699-120del | ENSP00000359871.5:n.699-123_699-120del | |
| ENST00000370841.8:c.600-123_600-120del | ENSP00000359878.4:n.600-123_600-120del | |
| ENST00000420607.6:c.612-123_612-120del | ENSP00000409612.2:n.612-123_612-120del | |
| ENST00000525808.5:c.*186-123_*186-120del | ENSP00000434823.1:n.*186-123_*186-120del | |
| ENST00000526129.5:c.*384-123_*384-120del | ENSP00000434092.1:n.*384-123_*384-120del | |
| ENST00000526196.5:c.*368-123_*368-120del | ENSP00000431953.1:n.*368-123_*368-120del | |
| ENST00000526930.1:n.373-123_373-120del | ||
| ENST00000529059.5:n.509-123_509-120del | ||
| ENST00000530953.6:c.*97-123_*97-120del | ENSP00000431372.1:n.*97-123_*97-120del | |
| ENST00000532207.5:n.207_210del | ||
| ENST00000532509.5:c.*364-123_*364-120del | ENSP00000432522.1:n.*364-123_*364-120del | |
| ENST00000534334.5:c.*184-123_*184-120del | ENSP00000435584.1:n.*184-123_*184-120del | |
| ENST00000541113.5:c.492-123_492-120del | ENSP00000442324.1:n.492-123_492-120del | |
| NM_000016.5:c.600-123_600-120del | NP_000007.1:n.600-123_600-120del | |
| NM_001127328.2:c.612-123_612-120del | NP_001120800.1:n.612-123_612-120del | |
| NM_001286042.1:c.492-123_492-120del | NP_001272971.1:n.492-123_492-120del | |
| NM_001286043.1:c.699-123_699-120del | NP_001272972.1:n.699-123_699-120del | |
| NM_001286044.1:c.33-123_33-120del | NP_001272973.1:n.33-123_33-120del | |
| NM_000016.6:c.600-123_600-120del MANE Select | NP_000007.1:n.600-123_600-120del | |
| NM_001127328.3:c.612-123_612-120del | NP_001120800.1:n.612-123_612-120del | |
| NM_001286042.2:c.492-123_492-120del | NP_001272971.1:n.492-123_492-120del | |
| NM_001286043.2:c.699-123_699-120del | NP_001272972.1:n.699-123_699-120del | |
| NM_001286044.2:c.33-123_33-120del | NP_001272973.1:n.33-123_33-120del |