Linked Data
ClinVar Variation Id:
421326
ClinVar RCV Id:
RCV000483947
dbSNP Id:
rs1064795060
gnomAD v2:
6-88228397-GACTCTGGAAAACACGATCCCAGCTGA-G
gnomAD v3:
6-87518679-GACTCTGGAAAACACGATCCCAGCTGA-G
gnomAD v4:
6-87518679-GACTCTGGAAAACACGATCCCAGCTGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87518683_87518708del , CM000668.2:g.87518683_87518708del | GRCh38 |
| NC_000006.11:g.88228401_88228426del , CM000668.1:g.88228401_88228426del | GRCh37 |
| NC_000006.10:g.88285120_88285145del | NCBI36 |
| NG_008601.1:g.76313_76338del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000451155.2:c.815_840del | ENSP00000389656.2:p.Phe272SerfsTer29 | |
| ENST00000493269.2:n.1360_1385del | ||
| ENST00000497828.2:n.3535_3560del | ||
| ENST00000684790.1:c.*346_*371del | ENSP00000509974.1:n.*346_*371del | |
| ENST00000685069.1:c.401_426del | ENSP00000509876.1:p.Phe134SerfsTer? | |
| ENST00000685219.1:n.1376_1401del | ||
| ENST00000685336.1:c.*763_*788del | ENSP00000508757.1:n.*763_*788del | |
| ENST00000685376.1:c.*462_*487del | ENSP00000508661.1:n.*462_*487del | |
| ENST00000685408.1:c.815_840del | ENSP00000509026.1:p.Phe272SerfsTer29 | |
| ENST00000685701.1:c.401_426del | ENSP00000509573.1:p.Phe134SerfsTer29 | |
| ENST00000685881.1:c.815_840del | ENSP00000510572.1:p.Phe272SerfsTer? | |
| ENST00000686142.1:c.815_840del | ENSP00000510793.1:p.Phe272SerfsTer? | |
| ENST00000686154.1:c.401_426del | ENSP00000508436.1:p.Phe134SerfsTer29 | |
| ENST00000686196.1:n.1585_1610del | ||
| ENST00000686284.1:c.401_426del | ENSP00000510099.1:p.Phe134SerfsTer29 | |
| ENST00000686371.1:n.842_867del | ||
| ENST00000686407.1:c.401_426del | ENSP00000509880.1:p.Phe134SerfsTer29 | |
| ENST00000686857.1:c.*256_*281del | ENSP00000509934.1:n.*256_*281del | |
| ENST00000686988.1:c.1438_1463del | ENSP00000508830.1:n.1438_1463del | |
| ENST00000687090.1:n.1705_1730del | ||
| ENST00000687437.1:c.1340_1365del | ENSP00000508968.1:p.Phe447SerfsTer29 | |
| ENST00000687579.1:c.*386_*411del | ENSP00000510257.1:n.*386_*411del | |
| ENST00000687586.1:c.263_288del | ENSP00000508441.1:p.Phe88SerfsTer29 | |
| ENST00000687729.1:c.781-23_783del | ||
| ENST00000687909.1:c.*750_*775del | ENSP00000508659.1:n.*750_*775del | |
| ENST00000688106.1:c.401_426del | ENSP00000509529.1:p.Phe134SerfsTer? | |
| ENST00000688391.1:n.1848_1873del | ||
| ENST00000688532.1:c.263_288del | ENSP00000510320.1:p.Phe88SerfsTer29 | |
| ENST00000688808.1:n.1846_1871del | ||
| ENST00000688842.1:n.3814_3839del | ||
| ENST00000689174.1:c.815_840del | ENSP00000510542.1:p.Phe272SerfsTer29 | |
| ENST00000689206.1:c.401_426del | ENSP00000510495.1:p.Phe134SerfsTer29 | |
| ENST00000689561.1:n.2356_2381del | ||
| ENST00000689594.1:n.2332_2357del | ||
| ENST00000689952.1:c.*678_*703del | ENSP00000508977.1:n.*678_*703del | |
| ENST00000690205.1:c.*1218_*1243del | ENSP00000508972.1:n.*1218_*1243del | |
| ENST00000690622.1:c.401_426del | ENSP00000508528.1:p.Phe134SerfsTer29 | |
| ENST00000690705.1:c.*256_*281del | ENSP00000509923.1:n.*256_*281del | |
| ENST00000690884.1:c.*256_*281del | ENSP00000509931.1:n.*256_*281del | |
| ENST00000691205.1:n.2306_2331del | ||
| ENST00000691238.1:c.*462_*487del | ENSP00000510094.1:n.*462_*487del | |
| ENST00000691533.1:n.1376_1401del | ||
| ENST00000691634.1:n.1221_1246del | ||
| ENST00000691725.1:c.1340_1365del | ENSP00000509453.1:p.Phe447SerfsTer29 | |
| ENST00000691815.1:c.*256_*281del | ENSP00000509579.1:n.*256_*281del | |
| ENST00000692270.1:c.*256_*281del | ENSP00000510055.1:n.*256_*281del | |
| ENST00000692394.1:c.119_144del | ENSP00000509567.1:p.Phe40SerfsTer29 | |
| ENST00000692684.1:c.815_840del | ENSP00000509712.1:p.Phe272SerfsTer29 | |
| ENST00000692843.1:c.*327_*352del | ENSP00000509592.1:n.*327_*352del | |
| ENST00000693327.1:c.815_840del | ENSP00000509195.1:p.Phe272SerfsTer29 | |
| ENST00000693431.1:c.815_840del | ENSP00000509147.1:p.Phe272SerfsTer29 | |
| ENST00000693605.1:c.*256_*281del | ENSP00000510050.1:n.*256_*281del | |
| ENST00000369536.10:c.1340_1365del MANE Select | ENSP00000358549.5:p.Phe447SerfsTer29 | |
| ENST00000369536.9:c.1340_1365del | ENSP00000358549.5:p.Phe447SerfsTer29 | |
| ENST00000497828.1:n.443_468del | ||
| NM_020320.3:c.1340_1365del | NP_064716.2:p.Phe447SerfsTer29 | |
| XM_005248735.3:c.815_840del | XP_005248792.2:p.Phe272SerfsTer29 | |
| XM_005248736.3:c.815_840del | XP_005248793.2:p.Phe272SerfsTer29 | |
| XM_005248737.3:c.815_840del | XP_005248794.2:p.Phe272SerfsTer29 | |
| XM_011535947.1:c.1340_1365del | XP_011534249.1:p.Phe447SerfsTer29 | |
| XM_011535948.1:c.1340_1365del | XP_011534250.1:p.Phe447SerfsTer29 | |
| XM_011535949.1:c.1340_1365del | XP_011534251.1:p.Phe447SerfsTer? | |
| XM_011535950.1:c.815_840del | XP_011534252.1:p.Phe272SerfsTer29 | |
| XM_011535951.1:c.815_840del | XP_011534253.1:p.Phe272SerfsTer29 | |
| XM_011535952.1:c.401_426del | XP_011534254.1:p.Phe134SerfsTer29 | |
| XM_011535953.1:c.401_426del | XP_011534255.1:p.Phe134SerfsTer29 | |
| XM_011535954.1:c.401_426del | XP_011534256.1:p.Phe134SerfsTer29 | |
| XM_011535955.1:c.401_426del | XP_011534257.1:p.Phe134SerfsTer29 | |
| XR_241848.1:n.1396_1421del | ||
| NM_001318785.1:c.815_840del | NP_001305714.1:p.Phe272SerfsTer29 | |
| NM_001350505.1:c.1340_1365del | NP_001337434.1:p.Phe447SerfsTer29 | |
| NM_001350506.1:c.815_840del | NP_001337435.1:p.Phe272SerfsTer29 | |
| NM_001350507.1:c.815_840del | NP_001337436.1:p.Phe272SerfsTer29 | |
| NM_001350508.1:c.815_840del | NP_001337437.1:p.Phe272SerfsTer29 | |
| NM_001350509.1:c.815_840del | NP_001337438.1:p.Phe272SerfsTer29 | |
| NM_001350510.1:c.815_840del | NP_001337439.1:p.Phe272SerfsTer29 | |
| NM_001350511.1:c.815_840del | NP_001337440.1:p.Phe272SerfsTer29 | |
| NM_020320.4:c.1340_1365del | NP_064716.2:p.Phe447SerfsTer29 | |
| NR_134857.1:n.1411_1436del | ||
| NR_146738.1:n.1683_1708del | ||
| NR_146739.1:n.1492_1517del | ||
| NR_146740.1:n.1760_1785del | ||
| NR_146741.1:n.1422_1447del | ||
| NR_146742.1:n.1794_1819del | ||
| NR_146743.1:n.1632_1657del | ||
| NR_146744.1:n.1760_1785del | ||
| NR_146745.1:n.1419_1444del | ||
| NR_146746.1:n.1854_1879del | ||
| NR_146747.1:n.1198_1223del | ||
| NR_146748.1:n.1658_1683del | ||
| NR_146749.1:n.1632_1657del | ||
| NR_146750.1:n.1756_1781del | ||
| NR_146751.1:n.1636_1661del | ||
| NR_146752.1:n.1700_1725del | ||
| NR_146753.1:n.1552_1577del | ||
| NR_146754.1:n.1496_1521del | ||
| NR_146755.1:n.1760_1785del | ||
| NR_146756.1:n.1415_1440del | ||
| NR_146757.1:n.1686_1711del | ||
| NR_146758.1:n.1415_1440del | ||
| NR_146759.1:n.1415_1440del | ||
| XM_011535949.3:c.1340_1365del | XP_011534251.1:p.Phe447SerfsTer? | |
| XM_017011073.1:c.815_840del | XP_016866562.1:p.Phe272SerfsTer29 | |
| XM_017011074.2:c.815_840del | XP_016866563.1:p.Phe272SerfsTer29 | |
| XM_017011075.2:c.815_840del | XP_016866564.1:p.Phe272SerfsTer29 | |
| XM_017011076.2:c.815_840del | XP_016866565.1:p.Phe272SerfsTer29 | |
| XM_017011077.2:c.815_840del | XP_016866566.1:p.Phe272SerfsTer29 | |
| XM_017011078.2:c.815_840del | XP_016866567.1:p.Phe272SerfsTer29 | |
| XM_024446494.1:c.815_840del | XP_024302262.1:p.Phe272SerfsTer29 | |
| NM_020320.5:c.1340_1365del MANE Select | NP_064716.2:p.Phe447SerfsTer29 | |
| NM_001318785.2:c.815_840del | NP_001305714.1:p.Phe272SerfsTer29 | |
| NM_001350505.2:c.1340_1365del | NP_001337434.1:p.Phe447SerfsTer29 | |
| NM_001350506.2:c.815_840del | NP_001337435.1:p.Phe272SerfsTer29 | |
| NM_001350507.2:c.815_840del | NP_001337436.1:p.Phe272SerfsTer29 | |
| NM_001350508.2:c.815_840del | NP_001337437.1:p.Phe272SerfsTer29 | |
| NM_001350509.2:c.815_840del | NP_001337438.1:p.Phe272SerfsTer29 | |
| NM_001350510.2:c.815_840del | NP_001337439.1:p.Phe272SerfsTer29 | |
| NM_001350511.2:c.815_840del | NP_001337440.1:p.Phe272SerfsTer29 | |
| NR_134857.2:n.1366_1391del | ||
| NR_146738.2:n.1638_1663del | ||
| NR_146739.2:n.1447_1472del | ||
| NR_146740.2:n.1715_1740del | ||
| NR_146741.2:n.1377_1402del | ||
| NR_146742.2:n.1749_1774del | ||
| NR_146743.2:n.1587_1612del | ||
| NR_146744.2:n.1715_1740del | ||
| NR_146745.2:n.1374_1399del | ||
| NR_146746.2:n.1809_1834del | ||
| NR_146747.2:n.1153_1178del | ||
| NR_146748.2:n.1613_1638del | ||
| NR_146749.2:n.1587_1612del | ||
| NR_146750.2:n.1711_1736del | ||
| NR_146751.2:n.1591_1616del | ||
| NR_146752.2:n.1655_1680del | ||
| NR_146753.2:n.1507_1532del | ||
| NR_146754.2:n.1451_1476del | ||
| NR_146755.2:n.1715_1740del | ||
| NR_146756.2:n.1370_1395del | ||
| NR_146757.2:n.1641_1666del | ||
| NR_146758.2:n.1370_1395del | ||
| NR_146759.2:n.1370_1395del |