Linked Data
dbSNP Id:
rs876661144
ExAC:
6:110113840 CAGA / C
gnomAD v2:
6-110113840-CAGA-C
gnomAD v3:
6-109792637-CAGA-C
gnomAD v4:
6-109792637-CAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109792644_109792646del , CM000668.2:g.109792644_109792646del | GRCh38 |
| NC_000006.11:g.110113847_110113849del , CM000668.1:g.110113847_110113849del | GRCh37 |
| NC_000006.10:g.110220540_110220542del | NCBI36 |
| NG_007977.1:g.106424_106426del , LRG_241:g.106424_106426del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230124.8:c.2439_2441del MANE Select | ENSP00000230124.4:p.Glu813del | |
| ENST00000415980.2:c.945_947del | ENSP00000405660.2:p.Glu315del | |
| ENST00000419951.2:n.787_789del | ||
| ENST00000674532.1:n.5635_5637del | ||
| ENST00000674557.1:c.*1732_*1734del | ENSP00000501608.1:n.*1732_*1734del | |
| ENST00000674569.1:c.*1558_*1560del | ENSP00000502769.1:n.*1558_*1560del | |
| ENST00000674571.1:c.*1558_*1560del | ENSP00000501633.1:n.*1558_*1560del | |
| ENST00000674575.1:c.*1558_*1560del | ENSP00000502276.1:n.*1558_*1560del | |
| ENST00000674641.1:c.2094_2096del | ENSP00000501609.1:p.Glu698del | |
| ENST00000674649.1:c.*2132_*2134del | ENSP00000501669.1:n.*2132_*2134del | |
| ENST00000674657.1:c.*1871_*1873del | ENSP00000502314.1:n.*1871_*1873del | |
| ENST00000674744.1:c.2433_2435del | ENSP00000501661.1:p.Glu811del | |
| ENST00000674778.1:c.*1657_*1659del | ENSP00000502742.1:n.*1657_*1659del | |
| ENST00000674783.1:c.*1354_*1356del | ENSP00000502755.1:n.*1354_*1356del | |
| ENST00000674884.1:c.2457_2459del | ENSP00000502668.1:p.Glu819del | |
| ENST00000674930.1:c.*1564_*1566del | ENSP00000502657.1:n.*1564_*1566del | |
| ENST00000674933.1:c.2208_2210del | ENSP00000502376.1:p.Glu736del | |
| ENST00000674956.1:c.*1653_*1655del | ENSP00000501904.1:n.*1653_*1655del | |
| ENST00000675004.1:c.*2391_*2393del | ENSP00000501868.1:n.*2391_*2393del | |
| ENST00000675009.1:c.*1823_*1825del | ENSP00000502098.1:n.*1823_*1825del | |
| ENST00000675096.1:c.2232_2234del | ENSP00000502116.1:p.Glu744del | |
| ENST00000675122.1:c.*546_*548del | ENSP00000501810.1:n.*546_*548del | |
| ENST00000675153.1:c.*1156_*1158del | ENSP00000501682.1:n.*1156_*1158del | |
| ENST00000675254.1:n.3898_3900del | ||
| ENST00000675272.1:n.6737_6739del | ||
| ENST00000675284.1:c.2439_2441del | ENSP00000502758.1:p.Glu813del | |
| ENST00000675301.1:n.1096_1098del | ||
| ENST00000675311.1:c.*1641_*1643del | ENSP00000501961.1:n.*1641_*1643del | |
| ENST00000675426.1:c.*1507_*1509del | ENSP00000501819.1:n.*1507_*1509del | |
| ENST00000675523.1:c.2208_2210del | ENSP00000502384.1:p.Glu736del | |
| ENST00000675552.1:c.*4702_*4704del | ENSP00000502197.1:n.*4702_*4704del | |
| ENST00000675726.1:c.2439_2441del | ENSP00000502452.1:p.Glu813del | |
| ENST00000675772.1:c.2439_2441del | ENSP00000501678.1:p.Glu813del | |
| ENST00000675831.1:c.2046_2048del | ENSP00000502382.1:p.Glu682del | |
| ENST00000675849.1:n.2061_2063del | ||
| ENST00000675879.1:c.1284_1286del | ||
| ENST00000675954.1:n.3772_3774del | ||
| ENST00000675991.1:c.*4266_*4268del | ENSP00000502162.1:n.*4266_*4268del | |
| ENST00000675994.1:c.*1578_*1580del | ENSP00000502419.1:n.*1578_*1580del | |
| ENST00000676021.1:c.*1017_*1019del | ENSP00000502746.1:n.*1017_*1019del | |
| ENST00000676037.1:c.*366_*368del | ENSP00000502181.1:n.*366_*368del | |
| ENST00000676136.1:n.5086_5088del | ||
| ENST00000676246.1:n.329_331del | ||
| ENST00000676442.1:c.2310_2312del | ENSP00000502595.1:p.Glu770del | |
| ENST00000230124.7:c.2439_2441del | ENSP00000230124.3:p.Glu813del | |
| NM_014845.5:c.2439_2441del , LRG_241t1:c.2439_2441del | NP_055660.1:p.Glu813del | |
| XM_011536281.1:c.2376_2378del | XP_011534583.1:p.Glu792del | |
| XM_011536281.3:c.2376_2378del | XP_011534583.1:p.Glu792del | |
| XM_017011592.1:c.1890_1892del | XP_016867081.1:p.Glu630del | |
| XM_017011593.2:c.1509_1511del | XP_016867082.1:p.Glu503del | |
| NM_014845.6:c.2439_2441del MANE Select | NP_055660.1:p.Glu813del |