Linked Data
dbSNP Id:
rs1316818978
gnomAD v2:
13-52518370-TGACCCTGGG-T
gnomAD v4:
13-51944234-TGACCCTGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944238_51944246del , CM000675.2:g.51944238_51944246del | GRCh38 |
| NC_000013.10:g.52518374_52518382del , CM000675.1:g.52518374_52518382del | GRCh37 |
| NC_000013.9:g.51416375_51416383del | NCBI36 |
| NG_008806.1:g.72252_72260del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*894-1689_*894-1681del | ENSP00000489512.2:n.*894-1689_*894-1681de... | |
| ENST00000673864.2:c.*1853_*1861del | ENSP00000501045.2:n.*1853_*1861del | |
| ENST00000674147.2:c.2488_2496del | ENSP00000500964.2:p.Pro830_Val832del | |
| ENST00000242839.10:c.3109_3117del MANE Select | ENSP00000242839.5:p.Pro1037_Val1039del | |
| ENST00000344297.9:c.2488_2496del | ENSP00000342559.5:p.Pro830_Val832del | |
| ENST00000400366.6:c.2776_2784del | ENSP00000383217.3:p.Pro926_Val928del | |
| ENST00000448424.7:c.2857_2865del | ENSP00000416738.3:p.Pro953_Val955del | |
| ENST00000673772.1:c.2875_2883del | ENSP00000501168.1:p.Pro959_Val961del | |
| ENST00000673867.1:n.3248_3256del | ||
| ENST00000674126.1:n.3472_3480del | ||
| ENST00000674147.1:c.2044_2052del | ENSP00000500964.1:p.Pro682_Val684del | |
| ENST00000242839.8:c.3109_3117del | ENSP00000242839.4:p.Pro1037_Val1039del | |
| ENST00000344297.8:c.2488_2496del | ENSP00000342559.5:p.Pro830_Val832del | |
| ENST00000400366.5:c.2776_2784del | ENSP00000383217.3:p.Pro926_Val928del | |
| ENST00000400370.8:c.1819_1827del | ENSP00000383221.3:p.Pro607_Val609del | |
| ENST00000418097.7:c.2914_2922del | ENSP00000393343.2:p.Pro972_Val974del | |
| ENST00000448424.6:c.2875_2883del | ENSP00000416738.2:p.Pro959_Val961del | |
| ENST00000466629.1:n.329_337del | ||
| ENST00000634296.1:c.1022-1689_1022-1681del | ||
| ENST00000634308.1:c.*210_*218del | ENSP00000489234.1:n.*210_*218del | |
| ENST00000634620.1:n.3853_3861del | ||
| ENST00000634810.1:n.2454_2462del | ||
| ENST00000634844.1:c.2965_2973del | ENSP00000489398.1:p.Pro989_Val991del | |
| ENST00000635406.1:n.455_463del | ||
| NM_000053.3:c.3109_3117del | NP_000044.2:p.Pro1037_Val1039del | |
| NM_001005918.2:c.2488_2496del | NP_001005918.1:p.Pro830_Val832del | |
| NM_001243182.1:c.2776_2784del | NP_001230111.1:p.Pro926_Val928del | |
| XM_005266423.2:c.3013_3021del | XP_005266480.1:p.Pro1005_Val1007del | |
| XM_005266424.3:c.3013_3021del | XP_005266481.1:p.Pro1005_Val1007del | |
| XM_005266427.2:c.2875_2883del | XP_005266484.1:p.Pro959_Val961del | |
| XM_005266428.1:c.2857_2865del | XP_005266485.1:p.Pro953_Val955del | |
| XM_005266430.3:c.3109_3117del | XP_005266487.1:p.Pro1037_Val1039del | |
| XM_005266431.2:c.3073_3081del | XP_005266488.1:p.Pro1025_Val1027del | |
| XM_005266432.2:c.2623_2631del | XP_005266489.1:p.Pro875_Val877del | |
| XM_006719837.2:c.3013_3021del | XP_006719900.1:p.Pro1005_Val1007del | |
| XM_006719838.1:c.925_933del | XP_006719901.1:p.Pro309_Val311del | |
| XM_006719839.1:c.877-1689_877-1681del | XP_006719902.1:n.877-1689_877-1681del | |
| XM_011535117.1:c.3013_3021del | XP_011533419.1:p.Pro1005_Val1007del | |
| XM_011535118.1:c.2974_2982del | XP_011533420.1:p.Pro992_Val994del | |
| XM_011535119.1:c.3061-1689_3061-1681del | XP_011533421.1:n.3061-1689_3061-1681del | |
| XM_011535120.1:c.2695_2703del | XP_011533422.1:p.Pro899_Val901del | |
| XM_011535121.1:c.2731-1689_2731-1681del | XP_011533423.1:n.2731-1689_2731-1681del | |
| XM_011535122.1:c.1777_1785del | XP_011533424.1:p.Pro593_Val595del | |
| XR_941601.1:n.3328_3336del | ||
| XR_941602.1:n.3328_3336del | ||
| XR_941603.1:n.3328_3336del | ||
| XR_941604.1:n.3328_3336del | ||
| NM_001330578.1:c.2875_2883del | NP_001317507.1:p.Pro959_Val961del | |
| NM_001330579.1:c.2857_2865del | NP_001317508.1:p.Pro953_Val955del | |
| XM_005266424.4:c.3013_3021del | XP_005266481.1:p.Pro1005_Val1007del | |
| XM_005266430.4:c.3109_3117del | XP_005266487.1:p.Pro1037_Val1039del | |
| XM_005266431.4:c.3073_3081del | XP_005266488.1:p.Pro1025_Val1027del | |
| XM_006719837.3:c.3013_3021del | XP_006719900.1:p.Pro1005_Val1007del | |
| XM_011535117.3:c.3013_3021del | XP_011533419.1:p.Pro1005_Val1007del | |
| XM_017020627.1:c.3013_3021del | XP_016876116.1:p.Pro1005_Val1007del | |
| NM_000053.4:c.3109_3117del MANE Select | NP_000044.2:p.Pro1037_Val1039del | |
| NM_001005918.3:c.2488_2496del | NP_001005918.1:p.Pro830_Val832del | |
| NM_001330579.2:c.2857_2865del | NP_001317508.1:p.Pro953_Val955del | |
| NM_001243182.2:c.2776_2784del | NP_001230111.1:p.Pro926_Val928del | |
| NM_001330578.2:c.2875_2883del | NP_001317507.1:p.Pro959_Val961del |