UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
gnomAD v4:
7-5986755-T-TTACCTTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5986757_5986763dup , CM000669.2:g.5986757_5986763dup | GRCh38 |
| NC_000007.13:g.6026388_6026394dup , CM000669.1:g.6026388_6026394dup | GRCh37 |
| NC_000007.12:g.5992914_5992920dup | NCBI36 |
| NG_008466.1:g.27345_27351dup , LRG_161:g.27345_27351dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1399_*1402+3dup | ||
| ENST00000699840.2:c.2000_2003+3dup | ||
| ENST00000699930.2:c.1895_1898+3dup | ||
| ENST00000406569.8:c.1678+325_1678+331dup | ENSP00000514464.1:n.1678+325_1678+331dup | |
| ENST00000644110.2:c.*1597_*1600+3dup | ||
| ENST00000699752.1:c.1847_1850+3dup | ||
| ENST00000699753.1:c.*1424_*1427+3dup | ||
| ENST00000699754.1:c.1805_1808+3dup | ||
| ENST00000699755.1:c.*1402_*1405+3dup | ||
| ENST00000699756.1:c.*1590_*1593+3dup | ||
| ENST00000699757.1:c.*1260_*1263+3dup | ||
| ENST00000699758.1:c.*1260_*1263+3dup | ||
| ENST00000699759.1:n.2857_2860+3dup | ||
| ENST00000699760.1:c.1685_1688+3dup | ||
| ENST00000699761.1:c.1598_1601+3dup | ||
| ENST00000699762.1:c.1430_1433+3dup | ||
| ENST00000699763.1:c.*1093_*1096+3dup | ||
| ENST00000699764.1:c.*321_*324+3dup | ||
| ENST00000699765.1:c.*1099_*1102+3dup | ||
| ENST00000699766.1:c.2003_2006+3dup | ||
| ENST00000699767.1:c.2003_2006+3dup | ||
| ENST00000699768.1:c.2003_2006+3dup | ||
| ENST00000699811.1:c.1598_1601+3dup | ||
| ENST00000699813.1:n.2116_2119+3dup | ||
| ENST00000699814.1:c.1626_1629+3dup | ||
| ENST00000699815.1:c.*1534_*1537+3dup | ||
| ENST00000699816.1:c.*893_*896+3dup | ||
| ENST00000699817.1:c.*1597_*1600+3dup | ||
| ENST00000699818.1:c.1598_1601+3dup | ||
| ENST00000699819.1:c.*1160_*1163+3dup | ||
| ENST00000699820.1:c.1144+3038_1144+3044dup | ENSP00000514621.1:n.1144+3038_1144+3044du... | |
| ENST00000699821.1:c.1598_1601+3dup | ||
| ENST00000699822.1:c.*1455_*1458+3dup | ||
| ENST00000699823.1:c.1598_1601+3dup | ||
| ENST00000699824.1:c.*1506_*1509+3dup | ||
| ENST00000699825.1:c.1442_1445+3dup | ||
| ENST00000699826.1:c.*1402_*1405+3dup | ||
| ENST00000699827.1:c.1835_1838+3dup | ||
| ENST00000699828.1:c.*1093_*1096+3dup | ||
| ENST00000699833.1:n.3775_3778+3dup | ||
| ENST00000699837.1:c.1598_1601+3dup | ||
| ENST00000699838.1:c.*1903_*1906+3dup | ||
| ENST00000699839.1:c.2189_2192+3dup | ||
| ENST00000699916.1:c.*1260_*1263+3dup | ||
| ENST00000699917.1:c.*1452_*1455+3dup | ||
| ENST00000699918.1:c.*1504_*1507+3dup | ||
| ENST00000699919.1:c.*1590_*1593+3dup | ||
| ENST00000699920.1:c.*1639_*1642+3dup | ||
| ENST00000699928.1:c.989-3771_989-3765dup | ENSP00000514693.1:n.989-3771_989-3765dup | |
| ENST00000699951.1:c.*1099_*1102+3dup | ||
| ENST00000699952.1:c.803+10564_803+10570dup | ENSP00000514707.1:n.803+10564_803+10570du... | |
| ENST00000265849.12:c.2003_2006+3dup | ||
| ENST00000642292.1:c.1598_1601+3dup | ||
| ENST00000642456.1:c.1598_1601+3dup | ||
| ENST00000643595.1:c.*1402_*1405+3dup | ||
| ENST00000644110.1:c.1685_1688+3dup | ||
| ENST00000265849.11:c.2003_2006+3dup | ||
| ENST00000382321.5:c.804-3771_804-3765dup | ENSP00000371758.4:n.804-3771_804-3765dup | |
| ENST00000406569.7:n.1678+325_1678+331dup | ||
| ENST00000441476.6:c.1685_1688+3dup | ||
| ENST00000469652.1:n.63-3857_63-3851dup | ||
| NM_000535.5:c.2003_2006+3dup , LRG_161t1:c.2003_2006+3dup | ||
| NR_003085.2:n.2085_2088+3dup | ||
| XM_006715742.2:c.1997_2000+3dup | ||
| XM_006715744.2:c.1070_1073+3dup | ||
| XM_011515427.1:c.2048_2051+3dup | ||
| XM_011515428.1:c.1892_1895+3dup | ||
| XM_011515429.1:c.1685_1688+3dup | ||
| XM_011515430.1:c.1685_1688+3dup | ||
| NM_000535.6:c.2003_2006+3dup | ||
| NM_001322003.1:c.1598_1601+3dup | ||
| NM_001322004.1:c.1598_1601+3dup | ||
| NM_001322005.1:c.1598_1601+3dup | ||
| NM_001322006.1:c.1847_1850+3dup | ||
| NM_001322007.1:c.1685_1688+3dup | ||
| NM_001322008.1:c.1685_1688+3dup | ||
| NM_001322009.1:c.1598_1601+3dup | ||
| NM_001322010.1:c.1442_1445+3dup | ||
| NM_001322011.1:c.1070_1073+3dup | ||
| NM_001322012.1:c.1070_1073+3dup | ||
| NM_001322013.1:c.1430_1433+3dup | ||
| NM_001322014.1:c.2003_2006+3dup | ||
| NM_001322015.1:c.1694_1697+3dup | ||
| NR_136154.1:n.2090_2093+3dup | ||
| XM_006715744.4:c.1070_1073+3dup | ||
| XM_017012342.2:c.1070_1073+3dup | ||
| XM_024446800.1:c.1442_1445+3dup | ||
| NM_000535.7:c.2003_2006+3dup | ||
| NM_001322003.2:c.1598_1601+3dup | ||
| NM_001322004.2:c.1598_1601+3dup | ||
| NM_001322005.2:c.1598_1601+3dup | ||
| NM_001322006.2:c.1847_1850+3dup | ||
| NM_001322008.2:c.1685_1688+3dup | ||
| NM_001322009.2:c.1598_1601+3dup | ||
| NM_001322010.2:c.1442_1445+3dup | ||
| NM_001322011.2:c.1070_1073+3dup | ||
| NM_001322012.2:c.1070_1073+3dup | ||
| NM_001322013.2:c.1430_1433+3dup | ||
| NM_001322014.2:c.2003_2006+3dup | ||
| NM_001322015.2:c.1694_1697+3dup | ||
| NM_001322007.2:c.1685_1688+3dup |