SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
dbSNP Id:
rs2131773481
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515846_131515847insACACCTCCTCACAC , CM000671.2:g.131515846_131515847insACACCTCCTCACAC | GRCh38 |
| NC_000009.11:g.134391233_134391234insACACCTCCTCACAC , CM000671.1:g.134391233_134391234insACACCTCCTCACAC | GRCh37 |
| NC_000009.10:g.133381054_133381055insACACCTCCTCACAC | NCBI36 |
| NG_008896.1:g.17945_17946insACACCTCCTCACAC | |
| NG_008896.2:g.17945_17946insACACCTCCTCACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+324_1110+325insACACCTCCTCACAC | ENSP00000343034.7:n.1110+324_1110+325insACACCTCCTCACAC | |
| ENST00000404875.7:n.1812+324_1812+325insACACCTCCTCACAC | ||
| ENST00000423007.6:c.1329+324_1329+325insACACCTCCTCACAC | ENSP00000404119.2:n.1329+324_1329+325insACACCTCCTCACAC | |
| ENST00000677295.2:c.*1616+324_*1616+325insACACCTCCTCACAC | ENSP00000504346.2:n.*1616+324_*1616+325insACACCTCCTCACAC | |
| ENST00000678264.2:c.*1455+324_*1455+325insACACCTCCTCACAC | ENSP00000503157.2:n.*1455+324_*1455+325insACACCTCCTCACAC | |
| ENST00000682070.1:n.1737+324_1737+325insACACCTCCTCACAC | ||
| ENST00000682539.1:c.97+324_97+325insACACCTCCTCACAC | ||
| ENST00000682813.1:n.1537+324_1537+325insACACCTCCTCACAC | ||
| ENST00000683392.1:n.4019+324_4019+325insACACCTCCTCACAC | ||
| ENST00000683712.1:n.1677+324_1677+325insACACCTCCTCACAC | ||
| ENST00000683900.1:n.3172+324_3172+325insACACCTCCTCACAC | ||
| ENST00000684062.1:n.1938+324_1938+325insACACCTCCTCACAC | ||
| ENST00000684579.1:n.3118+324_3118+325insACACCTCCTCACAC | ||
| ENST00000341012.12:c.1110+324_1110+325insACACCTCCTCACAC | ENSP00000343034.7:n.1110+324_1110+325insACACCTCCTCACAC | |
| ENST00000372220.5:c.141+324_141+325insACACCTCCTCACAC | ENSP00000361294.5:n.141+324_141+325insACACCTCCTCACAC | |
| ENST00000372228.9:c.1338+324_1338+325insACACCTCCTCACAC | ENSP00000361302.3:n.1338+324_1338+325insACACCTCCTCACAC | |
| ENST00000402686.8:c.1272+324_1272+325insACACCTCCTCACAC MANE Select | ENSP00000385797.4:n.1272+324_1272+325insACACCTCCTCACAC | |
| ENST00000676640.1:c.1272+324_1272+325insACACCTCCTCACAC | ENSP00000503281.1:n.1272+324_1272+325insACACCTCCTCACAC | |
| ENST00000676803.1:c.447+324_447+325insACACCTCCTCACAC | ENSP00000503093.1:n.447+324_447+325insACACCTCCTCACAC | |
| ENST00000676835.1:c.*487+324_*487+325insACACCTCCTCACAC | ENSP00000502911.1:n.*487+324_*487+325insACACCTCCTCACAC | |
| ENST00000677029.1:c.816+324_816+325insACACCTCCTCACAC | ENSP00000502936.1:n.816+324_816+325insACACCTCCTCACAC | |
| ENST00000677099.1:c.*982+324_*982+325insACACCTCCTCACAC | ENSP00000504553.1:n.*982+324_*982+325insACACCTCCTCACAC | |
| ENST00000677216.1:c.921+324_921+325insACACCTCCTCACAC | ENSP00000503772.1:n.921+324_921+325insACACCTCCTCACAC | |
| ENST00000677295.1:c.*649+324_*649+325insACACCTCCTCACAC | ENSP00000504346.1:n.*649+324_*649+325insACACCTCCTCACAC | |
| ENST00000677444.1:c.1078+324_1078+325insACACCTCCTCACAC | ||
| ENST00000677586.1:n.753+324_753+325insACACCTCCTCACAC | ||
| ENST00000677626.1:c.921+324_921+325insACACCTCCTCACAC | ENSP00000503552.1:n.921+324_921+325insACACCTCCTCACAC | |
| ENST00000677677.1:n.1232+324_1232+325insACACCTCCTCACAC | ||
| ENST00000677853.1:c.*280+324_*280+325insACACCTCCTCACAC | ENSP00000503488.1:n.*280+324_*280+325insACACCTCCTCACAC | |
| ENST00000677944.1:c.534+324_534+325insACACCTCCTCACAC | ||
| ENST00000678264.1:c.*649+324_*649+325insACACCTCCTCACAC | ENSP00000503157.1:n.*649+324_*649+325insACACCTCCTCACAC | |
| ENST00000678303.1:c.1182+324_1182+325insACACCTCCTCACAC | ENSP00000503696.1:n.1182+324_1182+325insACACCTCCTCACAC | |
| ENST00000678366.1:c.*1521+324_*1521+325insACACCTCCTCACAC | ENSP00000504353.1:n.*1521+324_*1521+325insACACCTCCTCACAC | |
| ENST00000678546.1:c.*1217+324_*1217+325insACACCTCCTCACAC | ENSP00000503062.1:n.*1217+324_*1217+325insACACCTCCTCACAC | |
| ENST00000678548.1:c.*1344+324_*1344+325insACACCTCCTCACAC | ENSP00000503934.1:n.*1344+324_*1344+325insACACCTCCTCACAC | |
| ENST00000678626.1:n.969+324_969+325insACACCTCCTCACAC | ||
| ENST00000678733.1:c.353+324_353+325insACACCTCCTCACAC | ||
| ENST00000678739.1:c.*1598+324_*1598+325insACACCTCCTCACAC | ENSP00000503806.1:n.*1598+324_*1598+325insACACCTCCTCACAC | |
| ENST00000678795.1:n.359+324_359+325insACACCTCCTCACAC | ||
| ENST00000678833.1:c.*719+324_*719+325insACACCTCCTCACAC | ENSP00000503893.1:n.*719+324_*719+325insACACCTCCTCACAC | |
| ENST00000678942.1:c.452+324_452+325insACACCTCCTCACAC | ENSP00000504690.1:n.452+324_452+325insACACCTCCTCACAC | |
| ENST00000679023.1:c.1110+324_1110+325insACACCTCCTCACAC | ENSP00000503718.1:n.1110+324_1110+325insACACCTCCTCACAC | |
| ENST00000679076.1:c.891+324_891+325insACACCTCCTCACAC | ||
| ENST00000679111.1:c.1272+324_1272+325insACACCTCCTCACAC | ENSP00000504257.1:n.1272+324_1272+325insACACCTCCTCACAC | |
| ENST00000679189.1:c.921+324_921+325insACACCTCCTCACAC | ENSP00000503356.1:n.921+324_921+325insACACCTCCTCACAC | |
| ENST00000341012.11:c.1110+324_1110+325insACACCTCCTCACAC | ENSP00000343034.7:n.1110+324_1110+325insACACCTCCTCACAC | |
| ENST00000372228.7:c.1338+324_1338+325insACACCTCCTCACAC | ENSP00000361302.3:n.1338+324_1338+325insACACCTCCTCACAC | |
| ENST00000402686.7:c.1272+324_1272+325insACACCTCCTCACAC | ENSP00000385797.3:n.1272+324_1272+325insACACCTCCTCACAC | |
| ENST00000404875.6:c.921+324_921+325insACACCTCCTCACAC | ENSP00000384531.2:n.921+324_921+325insACACCTCCTCACAC | |
| ENST00000423007.5:c.1272+324_1272+325insACACCTCCTCACAC | ENSP00000404119.1:n.1272+324_1272+325insACACCTCCTCACAC | |
| ENST00000485278.5:n.1827+324_1827+325insACACCTCCTCACAC | ||
| NM_001077365.1:c.1272+324_1272+325insACACCTCCTCACAC | NP_001070833.1:n.1272+324_1272+325insACACCTCCTCACAC | |
| NM_001077366.1:c.1110+324_1110+325insACACCTCCTCACAC | NP_001070834.1:n.1110+324_1110+325insACACCTCCTCACAC | |
| NM_001136113.1:c.1272+324_1272+325insACACCTCCTCACAC | NP_001129585.1:n.1272+324_1272+325insACACCTCCTCACAC | |
| NM_001136114.1:c.921+324_921+325insACACCTCCTCACAC | NP_001129586.1:n.921+324_921+325insACACCTCCTCACAC | |
| NM_007171.3:c.1338+324_1338+325insACACCTCCTCACAC | NP_009102.3:n.1338+324_1338+325insACACCTCCTCACAC | |
| XM_005272156.1:c.1338+324_1338+325insACACCTCCTCACAC | XP_005272213.1:n.1338+324_1338+325insACACCTCCTCACAC | |
| XM_005272158.1:c.1176+324_1176+325insACACCTCCTCACAC | XP_005272215.1:n.1176+324_1176+325insACACCTCCTCACAC | |
| XM_005272159.1:c.987+324_987+325insACACCTCCTCACAC | XP_005272216.1:n.987+324_987+325insACACCTCCTCACAC | |
| XM_005272162.1:c.141+324_141+325insACACCTCCTCACAC | XP_005272219.1:n.141+324_141+325insACACCTCCTCACAC | |
| XM_006716932.1:c.987+324_987+325insACACCTCCTCACAC | XP_006716995.1:n.987+324_987+325insACACCTCCTCACAC | |
| XM_011518140.1:c.1191+324_1191+325insACACCTCCTCACAC | XP_011516442.1:n.1191+324_1191+325insACACCTCCTCACAC | |
| XM_011518141.1:c.1125+324_1125+325insACACCTCCTCACAC | XP_011516443.1:n.1125+324_1125+325insACACCTCCTCACAC | |
| XM_011518142.1:c.1029+324_1029+325insACACCTCCTCACAC | XP_011516444.1:n.1029+324_1029+325insACACCTCCTCACAC | |
| XM_011518143.1:c.1023+324_1023+325insACACCTCCTCACAC | XP_011516445.1:n.1023+324_1023+325insACACCTCCTCACAC | |
| XM_011518144.1:c.1338+324_1338+325insACACCTCCTCACAC | XP_011516446.1:n.1338+324_1338+325insACACCTCCTCACAC | |
| XM_011518145.1:c.882+324_882+325insACACCTCCTCACAC | XP_011516447.1:n.882+324_882+325insACACCTCCTCACAC | |
| XM_011518146.1:c.1023+324_1023+325insACACCTCCTCACAC | XP_011516448.1:n.1023+324_1023+325insACACCTCCTCACAC | |
| XR_929703.1:n.1514+324_1514+325insACACCTCCTCACAC | ||
| NM_001353193.1:c.1338+324_1338+325insACACCTCCTCACAC | NP_001340122.1:n.1338+324_1338+325insACACCTCCTCACAC | |
| NM_001353194.1:c.1110+324_1110+325insACACCTCCTCACAC | NP_001340123.1:n.1110+324_1110+325insACACCTCCTCACAC | |
| NM_001353195.1:c.921+324_921+325insACACCTCCTCACAC | NP_001340124.1:n.921+324_921+325insACACCTCCTCACAC | |
| NM_001353196.1:c.1182+324_1182+325insACACCTCCTCACAC | NP_001340125.1:n.1182+324_1182+325insACACCTCCTCACAC | |
| NM_001353197.1:c.1176+324_1176+325insACACCTCCTCACAC | NP_001340126.1:n.1176+324_1176+325insACACCTCCTCACAC | |
| NM_001353198.1:c.1176+324_1176+325insACACCTCCTCACAC | NP_001340127.1:n.1176+324_1176+325insACACCTCCTCACAC | |
| NM_001353199.1:c.987+324_987+325insACACCTCCTCACAC | NP_001340128.1:n.987+324_987+325insACACCTCCTCACAC | |
| NM_001353200.1:c.816+324_816+325insACACCTCCTCACAC | NP_001340129.1:n.816+324_816+325insACACCTCCTCACAC | |
| NR_148391.1:n.1322+324_1322+325insACACCTCCTCACAC | ||
| NR_148392.1:n.1540+324_1540+325insACACCTCCTCACAC | ||
| NR_148393.1:n.1322+324_1322+325insACACCTCCTCACAC | ||
| NR_148394.1:n.1215+324_1215+325insACACCTCCTCACAC | ||
| NR_148395.1:n.1474+324_1474+325insACACCTCCTCACAC | ||
| NR_148396.1:n.1108+324_1108+325insACACCTCCTCACAC | ||
| NR_148397.1:n.1372+324_1372+325insACACCTCCTCACAC | ||
| NR_148398.1:n.1327+324_1327+325insACACCTCCTCACAC | ||
| NR_148399.1:n.1714+324_1714+325insACACCTCCTCACAC | ||
| NR_148400.1:n.1313+324_1313+325insACACCTCCTCACAC | ||
| XM_005272162.3:c.141+324_141+325insACACCTCCTCACAC | XP_005272219.1:n.141+324_141+325insACACCTCCTCACAC | |
| XM_006716932.2:c.987+324_987+325insACACCTCCTCACAC | XP_006716995.1:n.987+324_987+325insACACCTCCTCACAC | |
| XM_011518140.2:c.1191+324_1191+325insACACCTCCTCACAC | XP_011516442.1:n.1191+324_1191+325insACACCTCCTCACAC | |
| XM_011518141.2:c.1125+324_1125+325insACACCTCCTCACAC | XP_011516443.1:n.1125+324_1125+325insACACCTCCTCACAC | |
| XM_011518142.2:c.1029+324_1029+325insACACCTCCTCACAC | XP_011516444.1:n.1029+324_1029+325insACACCTCCTCACAC | |
| XM_011518143.2:c.1023+324_1023+325insACACCTCCTCACAC | XP_011516445.1:n.1023+324_1023+325insACACCTCCTCACAC | |
| XM_011518145.2:c.882+324_882+325insACACCTCCTCACAC | XP_011516447.1:n.882+324_882+325insACACCTCCTCACAC | |
| XM_017014205.2:c.141+324_141+325insACACCTCCTCACAC | XP_016869694.1:n.141+324_141+325insACACCTCCTCACAC | |
| XM_024447380.1:c.141+324_141+325insACACCTCCTCACAC | XP_024303148.1:n.141+324_141+325insACACCTCCTCACAC | |
| XM_024447381.1:c.447+324_447+325insACACCTCCTCACAC | XP_024303149.1:n.447+324_447+325insACACCTCCTCACAC | |
| XM_024447382.1:c.141+324_141+325insACACCTCCTCACAC | XP_024303150.1:n.141+324_141+325insACACCTCCTCACAC | |
| XR_001746160.2:n.1442+324_1442+325insACACCTCCTCACAC | ||
| XR_001746162.2:n.1508+324_1508+325insACACCTCCTCACAC | ||
| XR_001746164.1:n.1225+324_1225+325insACACCTCCTCACAC | ||
| XR_001746166.2:n.1659+324_1659+325insACACCTCCTCACAC | ||
| NM_001077365.2:c.1272+324_1272+325insACACCTCCTCACAC MANE Select | NP_001070833.1:n.1272+324_1272+325insACACCTCCTCACAC | |
| NM_001077366.2:c.1110+324_1110+325insACACCTCCTCACAC | NP_001070834.1:n.1110+324_1110+325insACACCTCCTCACAC | |
| NM_001136113.2:c.1272+324_1272+325insACACCTCCTCACAC | NP_001129585.1:n.1272+324_1272+325insACACCTCCTCACAC | |
| NM_001136114.2:c.921+324_921+325insACACCTCCTCACAC | NP_001129586.1:n.921+324_921+325insACACCTCCTCACAC | |
| NM_001353193.2:c.1338+324_1338+325insACACCTCCTCACAC | NP_001340122.2:n.1338+324_1338+325insACACCTCCTCACAC | |
| NM_001353194.2:c.1110+324_1110+325insACACCTCCTCACAC | NP_001340123.1:n.1110+324_1110+325insACACCTCCTCACAC | |
| NM_001353195.2:c.921+324_921+325insACACCTCCTCACAC | NP_001340124.1:n.921+324_921+325insACACCTCCTCACAC | |
| NM_001353196.2:c.1182+324_1182+325insACACCTCCTCACAC | NP_001340125.1:n.1182+324_1182+325insACACCTCCTCACAC | |
| NM_001353197.2:c.1176+324_1176+325insACACCTCCTCACAC | NP_001340126.2:n.1176+324_1176+325insACACCTCCTCACAC | |
| NM_001353198.2:c.1176+324_1176+325insACACCTCCTCACAC | NP_001340127.2:n.1176+324_1176+325insACACCTCCTCACAC | |
| NM_001353199.2:c.987+324_987+325insACACCTCCTCACAC | NP_001340128.2:n.987+324_987+325insACACCTCCTCACAC | |
| NM_001353200.2:c.816+324_816+325insACACCTCCTCACAC | NP_001340129.1:n.816+324_816+325insACACCTCCTCACAC | |
| NM_001374689.1:c.1260+324_1260+325insACACCTCCTCACAC | NP_001361618.1:n.1260+324_1260+325insACACCTCCTCACAC | |
| NM_001374690.1:c.1272+324_1272+325insACACCTCCTCACAC | NP_001361619.1:n.1272+324_1272+325insACACCTCCTCACAC | |
| NM_001374691.1:c.921+324_921+325insACACCTCCTCACAC | NP_001361620.1:n.921+324_921+325insACACCTCCTCACAC | |
| NM_001374692.1:c.921+324_921+325insACACCTCCTCACAC | NP_001361621.1:n.921+324_921+325insACACCTCCTCACAC | |
| NM_001374693.1:c.921+324_921+325insACACCTCCTCACAC | NP_001361622.1:n.921+324_921+325insACACCTCCTCACAC | |
| NM_001374695.1:c.882+324_882+325insACACCTCCTCACAC | NP_001361624.1:n.882+324_882+325insACACCTCCTCACAC | |
| NM_007171.4:c.1338+324_1338+325insACACCTCCTCACAC | NP_009102.4:n.1338+324_1338+325insACACCTCCTCACAC | |
| NR_148391.2:n.1306+324_1306+325insACACCTCCTCACAC | ||
| NR_148392.2:n.1524+324_1524+325insACACCTCCTCACAC | ||
| NR_148393.2:n.1306+324_1306+325insACACCTCCTCACAC | ||
| NR_148394.2:n.1199+324_1199+325insACACCTCCTCACAC | ||
| NR_148395.2:n.1458+324_1458+325insACACCTCCTCACAC | ||
| NR_148396.2:n.1092+324_1092+325insACACCTCCTCACAC | ||
| NR_148397.2:n.1356+324_1356+325insACACCTCCTCACAC | ||
| NR_148398.2:n.1311+324_1311+325insACACCTCCTCACAC | ||
| NR_148399.2:n.1698+324_1698+325insACACCTCCTCACAC | ||
| NR_148400.2:n.1297+324_1297+325insACACCTCCTCACAC |