Linked Data
dbSNP Id:
rs1320744958
gnomAD v2:
11-61727158-CCCCTCCT-C
gnomAD v3:
11-61959686-CCCCTCCT-C
gnomAD v4:
11-61959686-CCCCTCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959694_61959700del , CM000673.2:g.61959694_61959700del | GRCh38 |
| NC_000011.9:g.61727166_61727172del , CM000673.1:g.61727166_61727172del | GRCh37 |
| NC_000011.8:g.61483742_61483748del | NCBI36 |
| NG_009033.1:g.14811_14817del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.948+116_948+122del MANE Select | ENSP00000367282.4:n.948+116_948+122del | |
| ENST00000378043.8:c.948+116_948+122del | ENSP00000367282.4:n.948+116_948+122del | |
| ENST00000449131.6:c.768+116_768+122del | ENSP00000399709.2:n.768+116_768+122del | |
| ENST00000524877.5:n.2579+116_2579+122del | ||
| ENST00000524926.5:c.1151+116_1151+122del | ENSP00000432681.1:n.1151+116_1151+122del | |
| ENST00000526988.1:c.833+116_833+122del | ENSP00000433195.1:n.833+116_833+122del | |
| ENST00000534553.5:c.164-2561_164-2555del | ENSP00000431189.1:n.164-2561_164-2555del | |
| NM_001139443.1:c.768+116_768+122del | NP_001132915.1:n.768+116_768+122del | |
| NM_001300786.1:c.688-198_688-192del | NP_001287715.1:n.688-198_688-192del | |
| NM_001300787.1:c.768+116_768+122del | NP_001287716.1:n.768+116_768+122del | |
| NM_004183.3:c.948+116_948+122del | NP_004174.1:n.948+116_948+122del | |
| XM_005274210.2:c.948+116_948+122del | XP_005274267.1:n.948+116_948+122del | |
| XM_005274215.2:c.630+116_630+122del | XP_005274272.1:n.630+116_630+122del | |
| XM_005274216.2:c.971+116_971+122del | XP_005274273.1:n.971+116_971+122del | |
| XM_005274218.3:c.833+116_833+122del | XP_005274275.1:n.833+116_833+122del | |
| XM_005274219.2:c.867+1396_867+1402del | XP_005274276.1:n.867+1396_867+1402del | |
| XM_005274221.2:c.714+2230_714+2236del | XP_005274278.1:n.714+2230_714+2236del | |
| XM_011545229.1:c.948+116_948+122del | XP_011543531.1:n.948+116_948+122del | |
| XM_011545230.1:c.855+116_855+122del | XP_011543532.1:n.855+116_855+122del | |
| XM_011545231.1:c.630+116_630+122del | XP_011543533.1:n.630+116_630+122del | |
| XM_011545232.1:c.1151+116_1151+122del | XP_011543534.1:n.1151+116_1151+122del | |
| XM_011545233.1:c.105+116_105+122del | XP_011543535.1:n.105+116_105+122del | |
| NM_001363591.1:c.630+116_630+122del | NP_001350520.1:n.630+116_630+122del | |
| NM_001363592.1:c.1151+116_1151+122del | NP_001350521.1:n.1151+116_1151+122del | |
| NM_001363593.1:c.-25+116_-25+122del | NP_001350522.1:n.-25+116_-25+122del | |
| NR_134580.1:n.1731+116_1731+122del | ||
| XM_005274210.4:c.948+116_948+122del | XP_005274267.1:n.948+116_948+122del | |
| XM_005274215.4:c.630+116_630+122del | XP_005274272.1:n.630+116_630+122del | |
| XM_005274216.4:c.971+116_971+122del | XP_005274273.1:n.971+116_971+122del | |
| XM_005274219.4:c.867+1396_867+1402del | XP_005274276.1:n.867+1396_867+1402del | |
| XM_005274221.4:c.714+2230_714+2236del | XP_005274278.1:n.714+2230_714+2236del | |
| XM_011545229.3:c.948+116_948+122del | XP_011543531.1:n.948+116_948+122del | |
| XM_011545230.3:c.855+116_855+122del | XP_011543532.1:n.855+116_855+122del | |
| XM_011545233.3:c.105+116_105+122del | XP_011543535.1:n.105+116_105+122del | |
| XM_017018230.2:c.833+116_833+122del | XP_016873719.1:n.833+116_833+122del | |
| XR_001747952.2:n.1649+116_1649+122del | ||
| XR_001747953.2:n.1557+1396_1557+1402del | ||
| XR_001747954.2:n.1404+2230_1404+2236del | ||
| XR_001748245.1:n.196+39_196+45del | ||
| XR_002957249.1:n.196+39_196+45del | ||
| NM_004183.4:c.948+116_948+122del MANE Select | NP_004174.1:n.948+116_948+122del | |
| NM_001139443.2:c.768+116_768+122del | NP_001132915.1:n.768+116_768+122del | |
| NM_001300786.2:c.688-198_688-192del | NP_001287715.1:n.688-198_688-192del | |
| NM_001300787.2:c.768+116_768+122del | NP_001287716.1:n.768+116_768+122del | |
| NM_001363591.2:c.630+116_630+122del | NP_001350520.1:n.630+116_630+122del | |
| NM_001363593.2:c.-25+116_-25+122del | NP_001350522.1:n.-25+116_-25+122del | |
| NR_134580.2:n.1264+116_1264+122del |