Linked Data
ClinVar Variation Id:
554594
ClinVar RCV Id:
RCV000670261
dbSNP Id:
rs1553123864
MyVariant Identifiers:
chr1:g.75740021_75740038del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75740021_75740038del , CM000663.2:g.75740021_75740038del | GRCh38 |
| NC_000001.10:g.76205706_76205723del , CM000663.1:g.76205706_76205723del | GRCh37 |
| NC_000001.9:g.75978294_75978311del | NCBI36 |
| NG_007045.2:g.20664_20681del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.510_527del MANE Select | ENSP00000359878.5:p.Gly171_Ala176del | |
| ENST00000473018.3:n.2634_2651del | ||
| ENST00000541113.6:c.510_527del | ENSP00000442324.2:p.Gly171_Ala176del | |
| ENST00000679509.1:n.1472_1489del | ||
| ENST00000679530.1:c.*278_*295del | ENSP00000506454.1:n.*278_*295del | |
| ENST00000679615.1:n.2634_2651del | ||
| ENST00000679687.1:c.72_89del | ENSP00000506598.1:p.Gly25_Ala30del | |
| ENST00000679704.1:c.*276_*293del | ENSP00000505117.1:n.*276_*293del | |
| ENST00000679709.1:c.*473_*490del | ENSP00000506623.1:n.*473_*490del | |
| ENST00000679804.1:n.249_266del | ||
| ENST00000679976.1:c.*94_*111del | ENSP00000505565.1:n.*94_*111del | |
| ENST00000680166.1:n.3799_3816del | ||
| ENST00000680517.1:c.*7_*24del | ENSP00000505803.1:n.*7_*24del | |
| ENST00000680582.1:n.1472_1489del | ||
| ENST00000680613.1:c.510_527del | ENSP00000506114.1:p.Gly171_Ala176del | |
| ENST00000680662.1:c.*424_*441del | ENSP00000505080.1:n.*424_*441del | |
| ENST00000680691.1:c.*173_*190del | ENSP00000506487.1:n.*173_*190del | |
| ENST00000680694.1:c.*98_*115del | ENSP00000505658.1:n.*98_*115del | |
| ENST00000680743.1:c.*177_*194del | ENSP00000505073.1:n.*177_*194del | |
| ENST00000680749.1:c.510_527del | ENSP00000505122.1:p.Gly171_Ala176del | |
| ENST00000680798.1:c.*94_*111del | ENSP00000505670.1:n.*94_*111del | |
| ENST00000680805.1:c.510_527del | ENSP00000505447.1:p.Gly171_Ala176del | |
| ENST00000680844.1:c.*294_*311del | ENSP00000506541.1:n.*294_*311del | |
| ENST00000680948.1:c.*377_*394del | ENSP00000505441.1:n.*377_*394del | |
| ENST00000680964.1:c.510_527del | ENSP00000505961.1:p.Gly171_Ala176del | |
| ENST00000681037.1:c.510_527del | ENSP00000506025.1:p.Gly171_Ala176del | |
| ENST00000681063.1:c.510_527del | ENSP00000506616.1:p.Gly171_Ala176del | |
| ENST00000681209.1:c.*274_*291del | ENSP00000505877.1:n.*274_*291del | |
| ENST00000681278.1:n.867_884del | ||
| ENST00000681289.1:n.867_884del | ||
| ENST00000681361.1:c.*177_*194del | ENSP00000506679.1:n.*177_*194del | |
| ENST00000681430.1:c.510_527del | ENSP00000506301.1:p.Gly171_Ala176del | |
| ENST00000681446.1:c.*92_*109del | ENSP00000506244.1:n.*92_*109del | |
| ENST00000681450.1:c.*181_*198del | ENSP00000505660.1:n.*181_*198del | |
| ENST00000681548.1:c.*96_*113del | ENSP00000505275.1:n.*96_*113del | |
| ENST00000681616.1:c.*278_*295del | ENSP00000505111.1:n.*278_*295del | |
| ENST00000681621.1:c.*94_*111del | ENSP00000505770.1:n.*94_*111del | |
| ENST00000681680.1:n.2634_2651del | ||
| ENST00000681720.1:c.*55-5785_*55-5768del | ENSP00000505438.1:n.*55-5785_*55-5768del | |
| ENST00000681730.1:n.732_749del | ||
| ENST00000681790.1:c.252_269del | ENSP00000505130.1:p.Gly85_Ala90del | |
| ENST00000681837.1:n.1126_1143del | ||
| ENST00000681913.1:n.2634_2651del | ||
| ENST00000681916.1:c.*278_*295del | ENSP00000506477.1:n.*278_*295del | |
| ENST00000681930.1:n.2634_2651del | ||
| ENST00000370834.9:c.609_626del | ENSP00000359871.5:p.Gly204_Ala209del | |
| ENST00000370841.8:c.510_527del | ENSP00000359878.4:p.Gly171_Ala176del | |
| ENST00000420607.6:c.522_539del | ENSP00000409612.2:p.Gly175_Ala180del | |
| ENST00000525808.5:c.*96_*113del | ENSP00000434823.1:n.*96_*113del | |
| ENST00000526129.5:c.*294_*311del | ENSP00000434092.1:n.*294_*311del | |
| ENST00000526196.5:c.*278_*295del | ENSP00000431953.1:n.*278_*295del | |
| ENST00000526930.1:n.283_300del | ||
| ENST00000529059.5:n.419_436del | ||
| ENST00000530953.6:c.*7_*24del | ENSP00000431372.1:n.*7_*24del | |
| ENST00000532509.5:c.*274_*291del | ENSP00000432522.1:n.*274_*291del | |
| ENST00000534334.5:c.*94_*111del | ENSP00000435584.1:n.*94_*111del | |
| ENST00000541113.5:c.402_419del | ENSP00000442324.1:p.Gly135_Ala140del | |
| NM_000016.5:c.510_527del | NP_000007.1:p.Gly171_Ala176del | |
| NM_001127328.2:c.522_539del | NP_001120800.1:p.Gly175_Ala180del | |
| NM_001286042.1:c.402_419del | NP_001272971.1:p.Gly135_Ala140del | |
| NM_001286043.1:c.609_626del | NP_001272972.1:p.Gly204_Ala209del | |
| NM_001286044.1:c.-58_-41del | NP_001272973.1:n.-58_-41del | |
| NM_000016.6:c.510_527del MANE Select | NP_000007.1:p.Gly171_Ala176del | |
| NM_001127328.3:c.522_539del | NP_001120800.1:p.Gly175_Ala180del | |
| NM_001286042.2:c.402_419del | NP_001272971.1:p.Gly135_Ala140del | |
| NM_001286043.2:c.609_626del | NP_001272972.1:p.Gly204_Ala209del | |
| NM_001286044.2:c.-58_-41del | NP_001272973.1:n.-58_-41del |