Linked Data
ClinVar Variation Id:
226096
dbSNP Id:
rs747610156
ExAC:
1:76226844 TG / T
gnomAD v2:
1-76226844-TG-T
gnomAD v4:
1-75761159-TG-T
MyVariant Identifiers:
chr1:g.76226845del (hg19)
chr1:g.76226845delG (hg19)
chr1:g.75761160del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761160del , CM000663.2:g.75761160del | GRCh38 |
| NC_000001.10:g.76226845del , CM000663.1:g.76226845del | GRCh37 |
| NC_000001.9:g.75999433del | NCBI36 |
| NG_007045.2:g.41803del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.984del MANE Select | ENSP00000359878.5:p.Met328IlefsTer5 | |
| ENST00000473018.3:n.3108del | ||
| ENST00000532207.6:n.1995del | ||
| ENST00000541113.6:c.888del | ENSP00000442324.2:p.Met296IlefsTer5 | |
| ENST00000679509.1:n.1946del | ||
| ENST00000679530.1:c.*752del | ENSP00000506454.1:n.*752del | |
| ENST00000679615.1:n.2999del | ||
| ENST00000679687.1:c.546del | ENSP00000506598.1:p.Met182IlefsTer5 | |
| ENST00000679704.1:c.*750del | ENSP00000505117.1:n.*750del | |
| ENST00000679709.1:c.*947del | ENSP00000506623.1:n.*947del | |
| ENST00000679976.1:c.*568del | ENSP00000505565.1:n.*568del | |
| ENST00000680166.1:n.4273del | ||
| ENST00000680315.1:n.867del | ||
| ENST00000680517.1:c.*372del | ENSP00000505803.1:n.*372del | |
| ENST00000680582.1:n.1946del | ||
| ENST00000680613.1:c.*477del | ENSP00000506114.1:n.*477del | |
| ENST00000680662.1:c.*898del | ENSP00000505080.1:n.*898del | |
| ENST00000680691.1:c.*647del | ENSP00000506487.1:n.*647del | |
| ENST00000680694.1:c.*572del | ENSP00000505658.1:n.*572del | |
| ENST00000680743.1:c.*773del | ENSP00000505073.1:n.*773del | |
| ENST00000680749.1:c.*269del | ENSP00000505122.1:n.*269del | |
| ENST00000680798.1:c.*459del | ENSP00000505670.1:n.*459del | |
| ENST00000680805.1:c.843del | ENSP00000505447.1:p.Met281IlefsTer5 | |
| ENST00000680844.1:c.*768del | ENSP00000506541.1:n.*768del | |
| ENST00000680948.1:c.*851del | ENSP00000505441.1:n.*851del | |
| ENST00000680964.1:c.*77del | ENSP00000505961.1:n.*77del | |
| ENST00000681037.1:c.*2468del | ENSP00000506025.1:n.*2468del | |
| ENST00000681063.1:c.*253del | ENSP00000506616.1:n.*253del | |
| ENST00000681209.1:c.*639del | ENSP00000505877.1:n.*639del | |
| ENST00000681278.1:n.1686del | ||
| ENST00000681289.1:n.4979del | ||
| ENST00000681361.1:c.*651del | ENSP00000506679.1:n.*651del | |
| ENST00000681430.1:c.*77del | ENSP00000506301.1:n.*77del | |
| ENST00000681446.1:c.*688del | ENSP00000506244.1:n.*688del | |
| ENST00000681450.1:c.*655del | ENSP00000505660.1:n.*655del | |
| ENST00000681548.1:c.*570del | ENSP00000505275.1:n.*570del | |
| ENST00000681616.1:c.*643del | ENSP00000505111.1:n.*643del | |
| ENST00000681621.1:c.*568del | ENSP00000505770.1:n.*568del | |
| ENST00000681680.1:n.3079del | ||
| ENST00000681720.1:c.*439del | ENSP00000505438.1:n.*439del | |
| ENST00000681730.1:n.1206del | ||
| ENST00000681790.1:c.726del | ENSP00000505130.1:p.Met242IlefsTer5 | |
| ENST00000681837.1:n.1600del | ||
| ENST00000681913.1:n.3230del | ||
| ENST00000681916.1:c.*752del | ENSP00000506477.1:n.*752del | |
| ENST00000681930.1:n.3108del | ||
| ENST00000370834.9:c.1083del | ENSP00000359871.5:p.Met361IlefsTer5 | |
| ENST00000370841.8:c.984del | ENSP00000359878.4:p.Met328IlefsTer5 | |
| ENST00000420607.6:c.996del | ENSP00000409612.2:p.Met332IlefsTer5 | |
| ENST00000481374.1:n.257del | ||
| ENST00000525808.5:c.*570del | ENSP00000434823.1:n.*570del | |
| ENST00000526129.5:c.*768del | ENSP00000434092.1:n.*768del | |
| ENST00000526196.5:c.*752del | ENSP00000431953.1:n.*752del | |
| ENST00000528016.1:c.160-8017del | ENSP00000434284.1:n.160-8017del | |
| ENST00000529059.5:n.893del | ||
| ENST00000532207.5:n.714del | ||
| ENST00000534334.5:c.*725del | ENSP00000435584.1:n.*725del | |
| ENST00000541113.5:c.876del | ENSP00000442324.1:p.Met292IlefsTer5 | |
| NM_000016.5:c.984del | NP_000007.1:p.Met328IlefsTer5 | |
| NM_001127328.2:c.996del | NP_001120800.1:p.Met332IlefsTer5 | |
| NM_001286042.1:c.876del | NP_001272971.1:p.Met292IlefsTer5 | |
| NM_001286043.1:c.1083del | NP_001272972.1:p.Met361IlefsTer5 | |
| NM_001286044.1:c.417del | NP_001272973.1:p.Met139IlefsTer5 | |
| NM_000016.6:c.984del MANE Select | NP_000007.1:p.Met328IlefsTer5 | |
| NM_001127328.3:c.996del | NP_001120800.1:p.Met332IlefsTer5 | |
| NM_001286042.2:c.876del | NP_001272971.1:p.Met292IlefsTer5 | |
| NM_001286043.2:c.1083del | NP_001272972.1:p.Met361IlefsTer5 | |
| NM_001286044.2:c.417del | NP_001272973.1:p.Met139IlefsTer5 |