Linked Data
dbSNP Id:
rs1451347624
gnomAD v3:
1-75745728-AGAGAATTAACT-A
gnomAD v4:
1-75745728-AGAGAATTAACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75745733_75745743del , CM000663.2:g.75745733_75745743del | GRCh38 |
| NC_000001.10:g.76211418_76211428del , CM000663.1:g.76211418_76211428del | GRCh37 |
| NC_000001.9:g.75984006_75984016del | NCBI36 |
| NG_007045.2:g.26376_26386del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.600-73_600-63del MANE Select | ENSP00000359878.5:n.600-73_600-63del | |
| ENST00000473018.3:n.2724-73_2724-63del | ||
| ENST00000532207.6:n.1416_1426del | ||
| ENST00000541113.6:c.600-73_600-63del | ENSP00000442324.2:n.600-73_600-63del | |
| ENST00000679509.1:n.1562-73_1562-63del | ||
| ENST00000679530.1:c.*368-73_*368-63del | ENSP00000506454.1:n.*368-73_*368-63del | |
| ENST00000679615.1:n.2724-3686_2724-3676del | ||
| ENST00000679687.1:c.162-73_162-63del | ENSP00000506598.1:n.162-73_162-63del | |
| ENST00000679704.1:c.*366-73_*366-63del | ENSP00000505117.1:n.*366-73_*366-63del | |
| ENST00000679709.1:c.*563-73_*563-63del | ENSP00000506623.1:n.*563-73_*563-63del | |
| ENST00000679976.1:c.*184-73_*184-63del | ENSP00000505565.1:n.*184-73_*184-63del | |
| ENST00000680166.1:n.3889-73_3889-63del | ||
| ENST00000680517.1:c.*97-3686_*97-3676del | ENSP00000505803.1:n.*97-3686_*97-3676del | |
| ENST00000680582.1:n.1562-73_1562-63del | ||
| ENST00000680613.1:c.600-102_600-92del | ENSP00000506114.1:n.600-102_600-92del | |
| ENST00000680662.1:c.*514-73_*514-63del | ENSP00000505080.1:n.*514-73_*514-63del | |
| ENST00000680691.1:c.*263-73_*263-63del | ENSP00000506487.1:n.*263-73_*263-63del | |
| ENST00000680694.1:c.*188-73_*188-63del | ENSP00000505658.1:n.*188-73_*188-63del | |
| ENST00000680743.1:c.*267-73_*267-63del | ENSP00000505073.1:n.*267-73_*267-63del | |
| ENST00000680749.1:c.600-3686_600-3676del | ENSP00000505122.1:n.600-3686_600-3676del | |
| ENST00000680798.1:c.*184-3686_*184-3676del | ENSP00000505670.1:n.*184-3686_*184-3676de... | |
| ENST00000680805.1:c.600-73_600-63del | ENSP00000505447.1:n.600-73_600-63del | |
| ENST00000680844.1:c.*384-73_*384-63del | ENSP00000506541.1:n.*384-73_*384-63del | |
| ENST00000680948.1:c.*467-73_*467-63del | ENSP00000505441.1:n.*467-73_*467-63del | |
| ENST00000680964.1:c.600-73_600-63del | ENSP00000505961.1:n.600-73_600-63del | |
| ENST00000681037.1:c.*2113-102_*2113-92del | ENSP00000506025.1:n.*2113-102_*2113-92del... | |
| ENST00000681063.1:c.600-4718_600-4708del | ENSP00000506616.1:n.600-4718_600-4708del | |
| ENST00000681209.1:c.*364-3686_*364-3676del | ENSP00000505877.1:n.*364-3686_*364-3676de... | |
| ENST00000681278.1:n.957-73_957-63del | ||
| ENST00000681289.1:n.4522_4532del | ||
| ENST00000681361.1:c.*267-73_*267-63del | ENSP00000506679.1:n.*267-73_*267-63del | |
| ENST00000681430.1:c.600-73_600-63del | ENSP00000506301.1:n.600-73_600-63del | |
| ENST00000681446.1:c.*182-73_*182-63del | ENSP00000506244.1:n.*182-73_*182-63del | |
| ENST00000681450.1:c.*271-73_*271-63del | ENSP00000505660.1:n.*271-73_*271-63del | |
| ENST00000681548.1:c.*186-73_*186-63del | ENSP00000505275.1:n.*186-73_*186-63del | |
| ENST00000681616.1:c.*368-3686_*368-3676del | ENSP00000505111.1:n.*368-3686_*368-3676de... | |
| ENST00000681621.1:c.*184-73_*184-63del | ENSP00000505770.1:n.*184-73_*184-63del | |
| ENST00000681680.1:n.2724-102_2724-92del | ||
| ENST00000681720.1:c.*55-73_*55-63del | ENSP00000505438.1:n.*55-73_*55-63del | |
| ENST00000681730.1:n.822-73_822-63del | ||
| ENST00000681790.1:c.342-73_342-63del | ENSP00000505130.1:n.342-73_342-63del | |
| ENST00000681837.1:n.1216-73_1216-63del | ||
| ENST00000681913.1:n.2724-73_2724-63del | ||
| ENST00000681916.1:c.*368-73_*368-63del | ENSP00000506477.1:n.*368-73_*368-63del | |
| ENST00000681930.1:n.2724-73_2724-63del | ||
| ENST00000370834.9:c.699-73_699-63del | ENSP00000359871.5:n.699-73_699-63del | |
| ENST00000370841.8:c.600-73_600-63del | ENSP00000359878.4:n.600-73_600-63del | |
| ENST00000420607.6:c.612-73_612-63del | ENSP00000409612.2:n.612-73_612-63del | |
| ENST00000525808.5:c.*186-73_*186-63del | ENSP00000434823.1:n.*186-73_*186-63del | |
| ENST00000526129.5:c.*384-73_*384-63del | ENSP00000434092.1:n.*384-73_*384-63del | |
| ENST00000526196.5:c.*368-73_*368-63del | ENSP00000431953.1:n.*368-73_*368-63del | |
| ENST00000526930.1:n.373-73_373-63del | ||
| ENST00000529059.5:n.509-73_509-63del | ||
| ENST00000530953.6:c.*97-73_*97-63del | ENSP00000431372.1:n.*97-73_*97-63del | |
| ENST00000532207.5:n.257_267del | ||
| ENST00000532509.5:c.*364-73_*364-63del | ENSP00000432522.1:n.*364-73_*364-63del | |
| ENST00000534334.5:c.*184-73_*184-63del | ENSP00000435584.1:n.*184-73_*184-63del | |
| ENST00000541113.5:c.492-73_492-63del | ENSP00000442324.1:n.492-73_492-63del | |
| NM_000016.5:c.600-73_600-63del | NP_000007.1:n.600-73_600-63del | |
| NM_001127328.2:c.612-73_612-63del | NP_001120800.1:n.612-73_612-63del | |
| NM_001286042.1:c.492-73_492-63del | NP_001272971.1:n.492-73_492-63del | |
| NM_001286043.1:c.699-73_699-63del | NP_001272972.1:n.699-73_699-63del | |
| NM_001286044.1:c.33-73_33-63del | NP_001272973.1:n.33-73_33-63del | |
| NM_000016.6:c.600-73_600-63del MANE Select | NP_000007.1:n.600-73_600-63del | |
| NM_001127328.3:c.612-73_612-63del | NP_001120800.1:n.612-73_612-63del | |
| NM_001286042.2:c.492-73_492-63del | NP_001272971.1:n.492-73_492-63del | |
| NM_001286043.2:c.699-73_699-63del | NP_001272972.1:n.699-73_699-63del | |
| NM_001286044.2:c.33-73_33-63del | NP_001272973.1:n.33-73_33-63del |