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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13386292_13386294delinsCAA , CM000673.2:g.13386292_13386294delinsCAA | GRCh38 |
| NC_000011.9:g.13407839_13407841delinsCAA , CM000673.1:g.13407839_13407841delinsCAA | GRCh37 |
| NC_000011.8:g.13364415_13364417delinsCAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401424.6:c.1589-304_1589-302delinsCAA | ENSP00000385915.2:n.1589-304_1589-302delinsCAA | |
| ENST00000403290.6:c.1721-304_1721-302delinsCAA MANE Select | ENSP00000384517.1:n.1721-304_1721-302delinsCAA | |
| ENST00000403510.8:c.1721-304_1721-302delinsCAA | ENSP00000385581.4:n.1721-304_1721-302delinsCAA | |
| ENST00000529388.6:c.1721-304_1721-302delinsCAA | ENSP00000433571.2:n.1721-304_1721-302delinsCAA | |
| ENST00000673626.1:c.*1600-304_*1600-302delinsCAA | ENSP00000500988.1:n.*1600-304_*1600-302delinsCAA | |
| ENST00000673817.1:c.1733-304_1733-302delinsCAA | ENSP00000501212.1:n.1733-304_1733-302delinsCAA | |
| ENST00000673834.1:c.*1584-304_*1584-302delinsCAA | ENSP00000500983.1:n.*1584-304_*1584-302delinsCAA | |
| ENST00000673868.1:c.1311-304_1311-302delinsCAA | ||
| ENST00000673888.1:c.*1600-304_*1600-302delinsCAA | ENSP00000501059.1:n.*1600-304_*1600-302delinsCAA | |
| ENST00000673892.1:c.*1597-304_*1597-302delinsCAA | ENSP00000501106.1:n.*1597-304_*1597-302delinsCAA | |
| ENST00000674108.1:c.*1584-304_*1584-302delinsCAA | ENSP00000501035.1:n.*1584-304_*1584-302delinsCAA | |
| ENST00000389707.8:c.1718-304_1718-302delinsCAA | ENSP00000374357.4:n.1718-304_1718-302delinsCAA | |
| ENST00000401424.5:c.1592-304_1592-302delinsCAA | ENSP00000385915.1:n.1592-304_1592-302delinsCAA | |
| ENST00000403290.5:c.1721-304_1721-302delinsCAA | ENSP00000384517.1:n.1721-304_1721-302delinsCAA | |
| ENST00000403482.7:c.1715-304_1715-302delinsCAA | ENSP00000385897.3:n.1715-304_1715-302delinsCAA | |
| ENST00000403510.7:c.1589-304_1589-302delinsCAA | ENSP00000385581.3:n.1589-304_1589-302delinsCAA | |
| ENST00000472842.1:n.3195-304_3195-302delinsCAA | ||
| ENST00000524392.5:c.751-304_751-302delinsCAA | ENSP00000436442.1:n.751-304_751-302delinsCAA | |
| NM_001030272.2:c.1718-304_1718-302delinsCAA | NP_001025443.1:n.1718-304_1718-302delinsCAA | |
| NM_001030273.2:c.1589-304_1589-302delinsCAA | NP_001025444.1:n.1589-304_1589-302delinsCAA | |
| NM_001178.5:c.1718-304_1718-302delinsCAA | NP_001169.3:n.1718-304_1718-302delinsCAA | |
| NM_001297719.1:c.1721-304_1721-302delinsCAA | NP_001284648.1:n.1721-304_1721-302delinsCAA | |
| NM_001297722.1:c.1721-304_1721-302delinsCAA | NP_001284651.1:n.1721-304_1721-302delinsCAA | |
| NM_001297724.1:c.1592-304_1592-302delinsCAA | NP_001284653.1:n.1592-304_1592-302delinsCAA | |
| XM_006718233.2:c.1736-304_1736-302delinsCAA | XP_006718296.1:n.1736-304_1736-302delinsCAA | |
| XM_006718234.1:c.1607-304_1607-302delinsCAA | XP_006718297.1:n.1607-304_1607-302delinsCAA | |
| XM_011520105.1:c.1733-304_1733-302delinsCAA | XP_011518407.1:n.1733-304_1733-302delinsCAA | |
| XM_011520106.1:c.1721-304_1721-302delinsCAA | XP_011518408.1:n.1721-304_1721-302delinsCAA | |
| XM_011520107.1:c.1718-304_1718-302delinsCAA | XP_011518409.1:n.1718-304_1718-302delinsCAA | |
| XM_011520108.1:c.1736-304_1736-302delinsCAA | XP_011518410.1:n.1736-304_1736-302delinsCAA | |
| XM_011520109.1:c.1736-304_1736-302delinsCAA | XP_011518411.1:n.1736-304_1736-302delinsCAA | |
| XM_011520110.1:c.1607-304_1607-302delinsCAA | XP_011518412.1:n.1607-304_1607-302delinsCAA | |
| XM_011520111.1:c.1607-304_1607-302delinsCAA | XP_011518413.1:n.1607-304_1607-302delinsCAA | |
| XM_011520112.1:c.1592-304_1592-302delinsCAA | XP_011518414.1:n.1592-304_1592-302delinsCAA | |
| XM_011520113.1:c.1589-304_1589-302delinsCAA | XP_011518415.1:n.1589-304_1589-302delinsCAA | |
| NM_001351804.1:c.1718-304_1718-302delinsCAA | NP_001338733.1:n.1718-304_1718-302delinsCAA | |
| NM_001351805.1:c.1682-304_1682-302delinsCAA | NP_001338734.1:n.1682-304_1682-302delinsCAA | |
| NM_001351806.1:c.1679-304_1679-302delinsCAA | NP_001338735.1:n.1679-304_1679-302delinsCAA | |
| NM_001351807.1:c.1736-304_1736-302delinsCAA | NP_001338736.1:n.1736-304_1736-302delinsCAA | |
| NM_001351808.1:c.1592-304_1592-302delinsCAA | NP_001338737.1:n.1592-304_1592-302delinsCAA | |
| NM_001351809.1:c.1670-304_1670-302delinsCAA | NP_001338738.1:n.1670-304_1670-302delinsCAA | |
| NM_001351810.1:c.1367-304_1367-302delinsCAA | NP_001338739.1:n.1367-304_1367-302delinsCAA | |
| NM_001351811.1:c.971-304_971-302delinsCAA | NP_001338740.1:n.971-304_971-302delinsCAA | |
| NM_001351812.1:c.1670-304_1670-302delinsCAA | NP_001338741.1:n.1670-304_1670-302delinsCAA | |
| NM_001351813.1:c.1604-304_1604-302delinsCAA | NP_001338742.1:n.1604-304_1604-302delinsCAA | |
| NM_001351814.1:c.1736-304_1736-302delinsCAA | NP_001338743.1:n.1736-304_1736-302delinsCAA | |
| NM_001351815.1:c.1718-304_1718-302delinsCAA | NP_001338744.1:n.1718-304_1718-302delinsCAA | |
| NM_001351816.1:c.1592-304_1592-302delinsCAA | NP_001338745.1:n.1592-304_1592-302delinsCAA | |
| NM_001351817.1:c.1367-304_1367-302delinsCAA | NP_001338746.1:n.1367-304_1367-302delinsCAA | |
| NM_001351818.1:c.1589-304_1589-302delinsCAA | NP_001338747.1:n.1589-304_1589-302delinsCAA | |
| NM_001351819.1:c.1733-304_1733-302delinsCAA | NP_001338748.1:n.1733-304_1733-302delinsCAA | |
| NM_001351820.1:c.1592-304_1592-302delinsCAA | NP_001338749.1:n.1592-304_1592-302delinsCAA | |
| NM_001351821.1:c.1592-304_1592-302delinsCAA | NP_001338750.1:n.1592-304_1592-302delinsCAA | |
| NM_001351822.1:c.1592-304_1592-302delinsCAA | NP_001338751.1:n.1592-304_1592-302delinsCAA | |
| NM_001351823.1:c.1607-304_1607-302delinsCAA | NP_001338752.1:n.1607-304_1607-302delinsCAA | |
| NM_001351824.1:c.1721-304_1721-302delinsCAA | NP_001338753.1:n.1721-304_1721-302delinsCAA | |
| NR_147785.1:n.2220-304_2220-302delinsCAA | ||
| NR_147786.1:n.2217-304_2217-302delinsCAA | ||
| NR_147787.1:n.2370-304_2370-302delinsCAA | ||
| NR_147788.1:n.2272-304_2272-302delinsCAA | ||
| NR_147789.1:n.2438-304_2438-302delinsCAA | ||
| NR_147790.1:n.2291-304_2291-302delinsCAA | ||
| NR_147791.1:n.2288-304_2288-302delinsCAA | ||
| XM_011520105.3:c.1862-304_1862-302delinsCAA | XP_011518407.2:n.1862-304_1862-302delinsCAA | |
| XM_011520107.3:c.1847-304_1847-302delinsCAA | XP_011518409.2:n.1847-304_1847-302delinsCAA | |
| XM_017017738.2:c.1865-304_1865-302delinsCAA | XP_016873227.1:n.1865-304_1865-302delinsCAA | |
| XM_017017739.2:c.1850-304_1850-302delinsCAA | XP_016873228.1:n.1850-304_1850-302delinsCAA | |
| XM_017017741.1:c.1733-304_1733-302delinsCAA | XP_016873230.1:n.1733-304_1733-302delinsCAA | |
| XM_017017744.1:c.1604-304_1604-302delinsCAA | XP_016873233.1:n.1604-304_1604-302delinsCAA | |
| XM_017017748.1:c.1589-304_1589-302delinsCAA | XP_016873237.1:n.1589-304_1589-302delinsCAA | |
| XM_024448522.1:c.1670-304_1670-302delinsCAA | XP_024304290.1:n.1670-304_1670-302delinsCAA | |
| XR_001747876.2:n.2418-304_2418-302delinsCAA | ||
| XR_002957147.1:n.2433-304_2433-302delinsCAA | ||
| NM_001030272.3:c.1718-304_1718-302delinsCAA | NP_001025443.1:n.1718-304_1718-302delinsCAA | |
| NM_001030273.3:c.1589-304_1589-302delinsCAA | NP_001025444.1:n.1589-304_1589-302delinsCAA | |
| NM_001178.6:c.1718-304_1718-302delinsCAA | NP_001169.3:n.1718-304_1718-302delinsCAA | |
| NM_001297719.2:c.1721-304_1721-302delinsCAA MANE Select | NP_001284648.1:n.1721-304_1721-302delinsCAA | |
| NM_001297722.2:c.1721-304_1721-302delinsCAA | NP_001284651.1:n.1721-304_1721-302delinsCAA | |
| NM_001297724.2:c.1592-304_1592-302delinsCAA | NP_001284653.1:n.1592-304_1592-302delinsCAA | |
| NM_001351805.2:c.1682-304_1682-302delinsCAA | NP_001338734.1:n.1682-304_1682-302delinsCAA | |
| NM_001351806.2:c.1679-304_1679-302delinsCAA | NP_001338735.1:n.1679-304_1679-302delinsCAA | |
| NM_001351807.2:c.1736-304_1736-302delinsCAA | NP_001338736.1:n.1736-304_1736-302delinsCAA | |
| NM_001351808.2:c.1592-304_1592-302delinsCAA | NP_001338737.1:n.1592-304_1592-302delinsCAA | |
| NM_001351809.2:c.1670-304_1670-302delinsCAA | NP_001338738.1:n.1670-304_1670-302delinsCAA | |
| NM_001351810.2:c.1367-304_1367-302delinsCAA | NP_001338739.1:n.1367-304_1367-302delinsCAA | |
| NM_001351811.2:c.971-304_971-302delinsCAA | NP_001338740.1:n.971-304_971-302delinsCAA | |
| NM_001351812.2:c.1670-304_1670-302delinsCAA | NP_001338741.1:n.1670-304_1670-302delinsCAA | |
| NM_001351813.2:c.1604-304_1604-302delinsCAA | NP_001338742.1:n.1604-304_1604-302delinsCAA | |
| NM_001351814.2:c.1736-304_1736-302delinsCAA | NP_001338743.1:n.1736-304_1736-302delinsCAA | |
| NM_001351815.2:c.1718-304_1718-302delinsCAA | NP_001338744.1:n.1718-304_1718-302delinsCAA | |
| NM_001351816.2:c.1592-304_1592-302delinsCAA | NP_001338745.1:n.1592-304_1592-302delinsCAA | |
| NM_001351817.2:c.1367-304_1367-302delinsCAA | NP_001338746.1:n.1367-304_1367-302delinsCAA | |
| NM_001351818.2:c.1589-304_1589-302delinsCAA | NP_001338747.1:n.1589-304_1589-302delinsCAA | |
| NM_001351819.2:c.1733-304_1733-302delinsCAA | NP_001338748.1:n.1733-304_1733-302delinsCAA | |
| NM_001351820.2:c.1592-304_1592-302delinsCAA | NP_001338749.1:n.1592-304_1592-302delinsCAA | |
| NM_001351821.2:c.1592-304_1592-302delinsCAA | NP_001338750.1:n.1592-304_1592-302delinsCAA | |
| NM_001351822.2:c.1592-304_1592-302delinsCAA | NP_001338751.1:n.1592-304_1592-302delinsCAA | |
| NM_001351823.2:c.1607-304_1607-302delinsCAA | NP_001338752.1:n.1607-304_1607-302delinsCAA | |
| NM_001351824.2:c.1721-304_1721-302delinsCAA | NP_001338753.1:n.1721-304_1721-302delinsCAA | |
| NR_147785.2:n.2157-304_2157-302delinsCAA | ||
| NR_147786.2:n.2154-304_2154-302delinsCAA | ||
| NR_147787.2:n.2307-304_2307-302delinsCAA | ||
| NR_147788.2:n.2209-304_2209-302delinsCAA | ||
| NR_147789.2:n.2375-304_2375-302delinsCAA | ||
| NR_147790.2:n.2228-304_2228-302delinsCAA | ||
| NR_147791.2:n.2225-304_2225-302delinsCAA |