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:
7-5982849-C-CACCGTGCTCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5982849_5982850insACCGTGCTCCA , CM000669.2:g.5982849_5982850insACCGTGCTCCA | GRCh38 |
| NC_000007.13:g.6022480_6022481insACCGTGCTCCA , CM000669.1:g.6022480_6022481insACCGTGCTCCA | GRCh37 |
| NC_000007.12:g.5989006_5989007insACCGTGCTCCA | NCBI36 |
| NG_008466.1:g.31257_31258insTGGAGCACGGT , LRG_161:g.31257_31258insTGGAGCACGGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1544_*1545insTGGAGCACGGT | ENSP00000514615.2:n.*1544_*1545insTGGAGCACGGT | |
| ENST00000699840.2:c.2145_2146insTGGAGCACGGT | ENSP00000514638.2:p.Val716TrpfsTer12 | |
| ENST00000699930.2:c.2040_2041insTGGAGCACGGT | ENSP00000514695.2:p.Val681TrpfsTer12 | |
| ENST00000406569.8:c.1678+4237_1678+4238insTGGAGCACGGT | ENSP00000514464.1:n.1678+4237_1678+4238insTGGAGCACGGT | |
| ENST00000644110.2:c.*1742_*1743insTGGAGCACGGT | ENSP00000496392.2:n.*1742_*1743insTGGAGCACGGT | |
| ENST00000699752.1:c.1992_1993insTGGAGCACGGT | ENSP00000514561.1:p.Val665TrpfsTer12 | |
| ENST00000699753.1:c.*1569_*1570insTGGAGCACGGT | ENSP00000514562.1:n.*1569_*1570insTGGAGCACGGT | |
| ENST00000699754.1:c.1950_1951insTGGAGCACGGT | ENSP00000514563.1:p.Val651TrpfsTer12 | |
| ENST00000699755.1:c.*1547_*1548insTGGAGCACGGT | ENSP00000514564.1:n.*1547_*1548insTGGAGCACGGT | |
| ENST00000699756.1:c.*1735_*1736insTGGAGCACGGT | ENSP00000514565.1:n.*1735_*1736insTGGAGCACGGT | |
| ENST00000699757.1:c.*1405_*1406insTGGAGCACGGT | ENSP00000514566.1:n.*1405_*1406insTGGAGCACGGT | |
| ENST00000699758.1:c.*1405_*1406insTGGAGCACGGT | ENSP00000514567.1:n.*1405_*1406insTGGAGCACGGT | |
| ENST00000699759.1:n.3002_3003insTGGAGCACGGT | ||
| ENST00000699760.1:c.1830_1831insTGGAGCACGGT | ENSP00000514568.1:p.Val611TrpfsTer12 | |
| ENST00000699761.1:c.1743_1744insTGGAGCACGGT | ENSP00000514569.1:p.Val582TrpfsTer12 | |
| ENST00000699762.1:c.1575_1576insTGGAGCACGGT | ENSP00000514570.1:p.Val526TrpfsTer12 | |
| ENST00000699763.1:c.*1238_*1239insTGGAGCACGGT | ENSP00000514571.1:n.*1238_*1239insTGGAGCACGGT | |
| ENST00000699764.1:c.*466_*467insTGGAGCACGGT | ENSP00000514572.1:n.*466_*467insTGGAGCACGGT | |
| ENST00000699765.1:c.*1244_*1245insTGGAGCACGGT | ENSP00000514573.1:n.*1244_*1245insTGGAGCACGGT | |
| ENST00000699766.1:c.2148_2149insTGGAGCACGGT | ENSP00000514574.1:p.Val717TrpfsTer12 | |
| ENST00000699767.1:c.2148_2149insTGGAGCACGGT | ENSP00000514575.1:p.Val717TrpfsTer12 | |
| ENST00000699768.1:c.2148_2149insTGGAGCACGGT | ENSP00000514576.1:p.Val717TrpfsTer12 | |
| ENST00000699811.1:c.1743_1744insTGGAGCACGGT | ENSP00000514614.1:p.Val582TrpfsTer12 | |
| ENST00000699813.1:n.2261_2262insTGGAGCACGGT | ||
| ENST00000699814.1:c.1771_1772insTGGAGCACGGT | ||
| ENST00000699815.1:c.*1679_*1680insTGGAGCACGGT | ENSP00000514616.1:n.*1679_*1680insTGGAGCACGGT | |
| ENST00000699816.1:c.*1038_*1039insTGGAGCACGGT | ENSP00000514617.1:n.*1038_*1039insTGGAGCACGGT | |
| ENST00000699817.1:c.*1742_*1743insTGGAGCACGGT | ENSP00000514618.1:n.*1742_*1743insTGGAGCACGGT | |
| ENST00000699818.1:c.1743_1744insTGGAGCACGGT | ENSP00000514619.1:p.Val582TrpfsTer12 | |
| ENST00000699819.1:c.*1305_*1306insTGGAGCACGGT | ENSP00000514620.1:n.*1305_*1306insTGGAGCACGGT | |
| ENST00000699820.1:c.*86_*87insTGGAGCACGGT | ENSP00000514621.1:n.*86_*87insTGGAGCACGGT | |
| ENST00000699821.1:c.1743_1744insTGGAGCACGGT | ENSP00000514622.1:p.Val582TrpfsTer12 | |
| ENST00000699822.1:c.*1600_*1601insTGGAGCACGGT | ENSP00000514623.1:n.*1600_*1601insTGGAGCACGGT | |
| ENST00000699823.1:c.1743_1744insTGGAGCACGGT | ENSP00000514624.1:p.Val582TrpfsTer12 | |
| ENST00000699824.1:c.*1651_*1652insTGGAGCACGGT | ENSP00000514625.1:n.*1651_*1652insTGGAGCACGGT | |
| ENST00000699825.1:c.1587_1588insTGGAGCACGGT | ENSP00000514626.1:p.Val530TrpfsTer12 | |
| ENST00000699826.1:c.*1547_*1548insTGGAGCACGGT | ENSP00000514627.1:n.*1547_*1548insTGGAGCACGGT | |
| ENST00000699827.1:c.1980_1981insTGGAGCACGGT | ENSP00000514628.1:p.Val661TrpfsTer12 | |
| ENST00000699828.1:c.*1238_*1239insTGGAGCACGGT | ENSP00000514629.1:n.*1238_*1239insTGGAGCACGGT | |
| ENST00000699833.1:n.3920_3921insTGGAGCACGGT | ||
| ENST00000699837.1:c.1743_1744insTGGAGCACGGT | ENSP00000514635.1:p.Val582TrpfsTer12 | |
| ENST00000699838.1:c.*2048_*2049insTGGAGCACGGT | ENSP00000514636.1:n.*2048_*2049insTGGAGCACGGT | |
| ENST00000699839.1:c.2334_2335insTGGAGCACGGT | ENSP00000514637.1:p.Val779TrpfsTer12 | |
| ENST00000699916.1:c.*1405_*1406insTGGAGCACGGT | ENSP00000514684.1:n.*1405_*1406insTGGAGCACGGT | |
| ENST00000699917.1:c.*1597_*1598insTGGAGCACGGT | ENSP00000514685.1:n.*1597_*1598insTGGAGCACGGT | |
| ENST00000699918.1:c.*1649_*1650insTGGAGCACGGT | ENSP00000514686.1:n.*1649_*1650insTGGAGCACGGT | |
| ENST00000699919.1:c.*1735_*1736insTGGAGCACGGT | ENSP00000514687.1:n.*1735_*1736insTGGAGCACGGT | |
| ENST00000699920.1:c.*1784_*1785insTGGAGCACGGT | ENSP00000514688.1:n.*1784_*1785insTGGAGCACGGT | |
| ENST00000699928.1:c.*86_*87insTGGAGCACGGT | ENSP00000514693.1:n.*86_*87insTGGAGCACGGT | |
| ENST00000699951.1:c.*1244_*1245insTGGAGCACGGT | ENSP00000514706.1:n.*1244_*1245insTGGAGCACGGT | |
| ENST00000699952.1:c.804-9308_804-9307insTGGAGCACGGT | ENSP00000514707.1:n.804-9308_804-9307insTGGAGCACGGT | |
| ENST00000265849.12:c.2148_2149insTGGAGCACGGT MANE Select | ENSP00000265849.7:p.Val717TrpfsTer12 | |
| ENST00000642292.1:c.1743_1744insTGGAGCACGGT | ENSP00000495524.1:p.Val582TrpfsTer12 | |
| ENST00000642456.1:c.1743_1744insTGGAGCACGGT | ENSP00000493814.1:p.Val582TrpfsTer12 | |
| ENST00000643595.1:c.*1547_*1548insTGGAGCACGGT | ENSP00000494497.1:n.*1547_*1548insTGGAGCACGGT | |
| ENST00000644110.1:c.1830_1831insTGGAGCACGGT | ENSP00000496392.1:p.Val611TrpfsTer12 | |
| ENST00000265849.11:c.2148_2149insTGGAGCACGGT | ENSP00000265849.7:p.Val717TrpfsTer12 | |
| ENST00000382321.5:c.945_946insTGGAGCACGGT | ENSP00000371758.4:p.Val316TrpfsTer12 | |
| ENST00000406569.7:n.1678+4237_1678+4238insTGGAGCACGGT | ||
| ENST00000441476.6:c.1830_1831insTGGAGCACGGT | ENSP00000392843.2:p.Val611TrpfsTer12 | |
| NM_000535.5:c.2148_2149insTGGAGCACGGT , LRG_161t1:c.2148_2149insTGGAGCACGGT | NP_000526.1:p.Val717TrpfsTer12 | |
| NR_003085.2:n.2230_2231insTGGAGCACGGT | ||
| XM_006715742.2:c.2142_2143insTGGAGCACGGT | XP_006715805.1:p.Val715TrpfsTer12 | |
| XM_006715744.2:c.1215_1216insTGGAGCACGGT | XP_006715807.1:p.Val406TrpfsTer12 | |
| XM_011515427.1:c.2193_2194insTGGAGCACGGT | XP_011513729.1:p.Val732TrpfsTer12 | |
| XM_011515428.1:c.2037_2038insTGGAGCACGGT | XP_011513730.1:p.Val680TrpfsTer12 | |
| XM_011515429.1:c.1830_1831insTGGAGCACGGT | XP_011513731.1:p.Val611TrpfsTer12 | |
| XM_011515430.1:c.1830_1831insTGGAGCACGGT | XP_011513732.1:p.Val611TrpfsTer12 | |
| NM_000535.6:c.2148_2149insTGGAGCACGGT | NP_000526.2:p.Val717TrpfsTer12 | |
| NM_001322003.1:c.1743_1744insTGGAGCACGGT | NP_001308932.1:p.Val582TrpfsTer12 | |
| NM_001322004.1:c.1743_1744insTGGAGCACGGT | NP_001308933.1:p.Val582TrpfsTer12 | |
| NM_001322005.1:c.1743_1744insTGGAGCACGGT | NP_001308934.1:p.Val582TrpfsTer12 | |
| NM_001322006.1:c.1992_1993insTGGAGCACGGT | NP_001308935.1:p.Val665TrpfsTer12 | |
| NM_001322007.1:c.1830_1831insTGGAGCACGGT | NP_001308936.1:p.Val611TrpfsTer12 | |
| NM_001322008.1:c.1830_1831insTGGAGCACGGT | NP_001308937.1:p.Val611TrpfsTer12 | |
| NM_001322009.1:c.1743_1744insTGGAGCACGGT | NP_001308938.1:p.Val582TrpfsTer12 | |
| NM_001322010.1:c.1587_1588insTGGAGCACGGT | NP_001308939.1:p.Val530TrpfsTer12 | |
| NM_001322011.1:c.1215_1216insTGGAGCACGGT | NP_001308940.1:p.Val406TrpfsTer12 | |
| NM_001322012.1:c.1215_1216insTGGAGCACGGT | NP_001308941.1:p.Val406TrpfsTer12 | |
| NM_001322013.1:c.1575_1576insTGGAGCACGGT | NP_001308942.1:p.Val526TrpfsTer12 | |
| NM_001322014.1:c.2148_2149insTGGAGCACGGT | NP_001308943.1:p.Val717TrpfsTer12 | |
| NM_001322015.1:c.1839_1840insTGGAGCACGGT | NP_001308944.1:p.Val614TrpfsTer12 | |
| NR_136154.1:n.2235_2236insTGGAGCACGGT | ||
| XM_006715744.4:c.1215_1216insTGGAGCACGGT | XP_006715807.1:p.Val406TrpfsTer12 | |
| XM_017012342.2:c.1215_1216insTGGAGCACGGT | XP_016867831.1:p.Val406TrpfsTer12 | |
| XM_024446800.1:c.1587_1588insTGGAGCACGGT | XP_024302568.1:p.Val530TrpfsTer12 | |
| NM_000535.7:c.2148_2149insTGGAGCACGGT MANE Select | NP_000526.2:p.Val717TrpfsTer12 | |
| NM_001322003.2:c.1743_1744insTGGAGCACGGT | NP_001308932.1:p.Val582TrpfsTer12 | |
| NM_001322004.2:c.1743_1744insTGGAGCACGGT | NP_001308933.1:p.Val582TrpfsTer12 | |
| NM_001322005.2:c.1743_1744insTGGAGCACGGT | NP_001308934.1:p.Val582TrpfsTer12 | |
| NM_001322006.2:c.1992_1993insTGGAGCACGGT | NP_001308935.1:p.Val665TrpfsTer12 | |
| NM_001322008.2:c.1830_1831insTGGAGCACGGT | NP_001308937.1:p.Val611TrpfsTer12 | |
| NM_001322009.2:c.1743_1744insTGGAGCACGGT | NP_001308938.1:p.Val582TrpfsTer12 | |
| NM_001322010.2:c.1587_1588insTGGAGCACGGT | NP_001308939.1:p.Val530TrpfsTer12 | |
| NM_001322011.2:c.1215_1216insTGGAGCACGGT | NP_001308940.1:p.Val406TrpfsTer12 | |
| NM_001322012.2:c.1215_1216insTGGAGCACGGT | NP_001308941.1:p.Val406TrpfsTer12 | |
| NM_001322013.2:c.1575_1576insTGGAGCACGGT | NP_001308942.1:p.Val526TrpfsTer12 | |
| NM_001322014.2:c.2148_2149insTGGAGCACGGT | NP_001308943.1:p.Val717TrpfsTer12 | |
| NM_001322015.2:c.1839_1840insTGGAGCACGGT | NP_001308944.1:p.Val614TrpfsTer12 | |
| NM_001322007.2:c.1830_1831insTGGAGCACGGT | NP_001308936.1:p.Val611TrpfsTer12 |