SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515722_131515739delinsGCACTTCCTGTAACAGGA , CM000671.2:g.131515722_131515739delinsGCACTTCCTGTAACAGGA | GRCh38 |
| NC_000009.11:g.134391109_134391126delinsGCACTTCCTGTAACAGGA , CM000671.1:g.134391109_134391126delinsGCACTTCCTGTAACAGGA | GRCh37 |
| NC_000009.10:g.133380930_133380947delinsGCACTTCCTGTAACAGGA | NCBI36 |
| NG_008896.1:g.17821_17838delinsGCACTTCCTGTAACAGGA | |
| NG_008896.2:g.17821_17838delinsGCACTTCCTGTAACAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | ENSP00000343034.7:n.1110+200_1110+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000404875.7:n.1812+200_1812+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000423007.6:c.1329+200_1329+217delinsGCACTTCCTGTAACAGGA | ENSP00000404119.2:n.1329+200_1329+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000677295.2:c.*1616+200_*1616+217delinsGCACTTCCTGTAACAGGA | ENSP00000504346.2:n.*1616+200_*1616+217delinsGCACTTCCTGTAACAG... | |
| ENST00000678264.2:c.*1455+200_*1455+217delinsGCACTTCCTGTAACAGGA | ENSP00000503157.2:n.*1455+200_*1455+217delinsGCACTTCCTGTAACAG... | |
| ENST00000682070.1:n.1737+200_1737+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000682539.1:c.97+200_97+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000682813.1:n.1537+200_1537+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000683392.1:n.4019+200_4019+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000683712.1:n.1677+200_1677+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000683900.1:n.3172+200_3172+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000684062.1:n.1938+200_1938+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000684579.1:n.3118+200_3118+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000341012.12:c.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | ENSP00000343034.7:n.1110+200_1110+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000372220.5:c.141+200_141+217delinsGCACTTCCTGTAACAGGA | ENSP00000361294.5:n.141+200_141+217delinsGCACTTCCTGTAACAGGA | |
| ENST00000372228.9:c.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | ENSP00000361302.3:n.1338+200_1338+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000402686.8:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA MANE Select | ENSP00000385797.4:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000676640.1:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | ENSP00000503281.1:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000676803.1:c.447+200_447+217delinsGCACTTCCTGTAACAGGA | ENSP00000503093.1:n.447+200_447+217delinsGCACTTCCTGTAACAGGA | |
| ENST00000676835.1:c.*487+200_*487+217delinsGCACTTCCTGTAACAGGA | ENSP00000502911.1:n.*487+200_*487+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000677029.1:c.816+200_816+217delinsGCACTTCCTGTAACAGGA | ENSP00000502936.1:n.816+200_816+217delinsGCACTTCCTGTAACAGGA | |
| ENST00000677099.1:c.*982+200_*982+217delinsGCACTTCCTGTAACAGGA | ENSP00000504553.1:n.*982+200_*982+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000677216.1:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | ENSP00000503772.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| ENST00000677295.1:c.*649+200_*649+217delinsGCACTTCCTGTAACAGGA | ENSP00000504346.1:n.*649+200_*649+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000677444.1:c.1078+200_1078+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000677586.1:n.753+200_753+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000677626.1:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | ENSP00000503552.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| ENST00000677677.1:n.1232+200_1232+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000677853.1:c.*280+200_*280+217delinsGCACTTCCTGTAACAGGA | ENSP00000503488.1:n.*280+200_*280+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000677944.1:c.534+200_534+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000678264.1:c.*649+200_*649+217delinsGCACTTCCTGTAACAGGA | ENSP00000503157.1:n.*649+200_*649+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000678303.1:c.1182+200_1182+217delinsGCACTTCCTGTAACAGGA | ENSP00000503696.1:n.1182+200_1182+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000678366.1:c.*1521+200_*1521+217delinsGCACTTCCTGTAACAGGA | ENSP00000504353.1:n.*1521+200_*1521+217delinsGCACTTCCTGTAACAG... | |
| ENST00000678546.1:c.*1217+200_*1217+217delinsGCACTTCCTGTAACAGGA | ENSP00000503062.1:n.*1217+200_*1217+217delinsGCACTTCCTGTAACAG... | |
| ENST00000678548.1:c.*1344+200_*1344+217delinsGCACTTCCTGTAACAGGA | ENSP00000503934.1:n.*1344+200_*1344+217delinsGCACTTCCTGTAACAG... | |
| ENST00000678626.1:n.969+200_969+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000678733.1:c.353+200_353+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000678739.1:c.*1598+200_*1598+217delinsGCACTTCCTGTAACAGGA | ENSP00000503806.1:n.*1598+200_*1598+217delinsGCACTTCCTGTAACAG... | |
| ENST00000678795.1:n.359+200_359+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000678833.1:c.*719+200_*719+217delinsGCACTTCCTGTAACAGGA | ENSP00000503893.1:n.*719+200_*719+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000678942.1:c.452+200_452+217delinsGCACTTCCTGTAACAGGA | ENSP00000504690.1:n.452+200_452+217delinsGCACTTCCTGTAACAGGA | |
| ENST00000679023.1:c.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | ENSP00000503718.1:n.1110+200_1110+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000679076.1:c.891+200_891+217delinsGCACTTCCTGTAACAGGA | ||
| ENST00000679111.1:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | ENSP00000504257.1:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000679189.1:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | ENSP00000503356.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| ENST00000341012.11:c.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | ENSP00000343034.7:n.1110+200_1110+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000372228.7:c.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | ENSP00000361302.3:n.1338+200_1338+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000402686.7:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | ENSP00000385797.3:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000404875.6:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | ENSP00000384531.2:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| ENST00000423007.5:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | ENSP00000404119.1:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA... | |
| ENST00000485278.5:n.1827+200_1827+217delinsGCACTTCCTGTAACAGGA | ||
| NM_001077365.1:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | NP_001070833.1:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | |
| NM_001077366.1:c.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | NP_001070834.1:n.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | |
| NM_001136113.1:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | NP_001129585.1:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | |
| NM_001136114.1:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | NP_001129586.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| NM_007171.3:c.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | NP_009102.3:n.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | |
| XM_005272156.1:c.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | XP_005272213.1:n.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | |
| XM_005272158.1:c.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | XP_005272215.1:n.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | |
| XM_005272159.1:c.987+200_987+217delinsGCACTTCCTGTAACAGGA | XP_005272216.1:n.987+200_987+217delinsGCACTTCCTGTAACAGGA | |
| XM_005272162.1:c.141+200_141+217delinsGCACTTCCTGTAACAGGA | XP_005272219.1:n.141+200_141+217delinsGCACTTCCTGTAACAGGA | |
| XM_006716932.1:c.987+200_987+217delinsGCACTTCCTGTAACAGGA | XP_006716995.1:n.987+200_987+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518140.1:c.1191+200_1191+217delinsGCACTTCCTGTAACAGGA | XP_011516442.1:n.1191+200_1191+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518141.1:c.1125+200_1125+217delinsGCACTTCCTGTAACAGGA | XP_011516443.1:n.1125+200_1125+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518142.1:c.1029+200_1029+217delinsGCACTTCCTGTAACAGGA | XP_011516444.1:n.1029+200_1029+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518143.1:c.1023+200_1023+217delinsGCACTTCCTGTAACAGGA | XP_011516445.1:n.1023+200_1023+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518144.1:c.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | XP_011516446.1:n.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518145.1:c.882+200_882+217delinsGCACTTCCTGTAACAGGA | XP_011516447.1:n.882+200_882+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518146.1:c.1023+200_1023+217delinsGCACTTCCTGTAACAGGA | XP_011516448.1:n.1023+200_1023+217delinsGCACTTCCTGTAACAGGA | |
| XR_929703.1:n.1514+200_1514+217delinsGCACTTCCTGTAACAGGA | ||
| NM_001353193.1:c.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | NP_001340122.1:n.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353194.1:c.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | NP_001340123.1:n.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353195.1:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | NP_001340124.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353196.1:c.1182+200_1182+217delinsGCACTTCCTGTAACAGGA | NP_001340125.1:n.1182+200_1182+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353197.1:c.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | NP_001340126.1:n.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353198.1:c.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | NP_001340127.1:n.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353199.1:c.987+200_987+217delinsGCACTTCCTGTAACAGGA | NP_001340128.1:n.987+200_987+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353200.1:c.816+200_816+217delinsGCACTTCCTGTAACAGGA | NP_001340129.1:n.816+200_816+217delinsGCACTTCCTGTAACAGGA | |
| NR_148391.1:n.1322+200_1322+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148392.1:n.1540+200_1540+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148393.1:n.1322+200_1322+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148394.1:n.1215+200_1215+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148395.1:n.1474+200_1474+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148396.1:n.1108+200_1108+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148397.1:n.1372+200_1372+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148398.1:n.1327+200_1327+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148399.1:n.1714+200_1714+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148400.1:n.1313+200_1313+217delinsGCACTTCCTGTAACAGGA | ||
| XM_005272162.3:c.141+200_141+217delinsGCACTTCCTGTAACAGGA | XP_005272219.1:n.141+200_141+217delinsGCACTTCCTGTAACAGGA | |
| XM_006716932.2:c.987+200_987+217delinsGCACTTCCTGTAACAGGA | XP_006716995.1:n.987+200_987+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518140.2:c.1191+200_1191+217delinsGCACTTCCTGTAACAGGA | XP_011516442.1:n.1191+200_1191+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518141.2:c.1125+200_1125+217delinsGCACTTCCTGTAACAGGA | XP_011516443.1:n.1125+200_1125+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518142.2:c.1029+200_1029+217delinsGCACTTCCTGTAACAGGA | XP_011516444.1:n.1029+200_1029+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518143.2:c.1023+200_1023+217delinsGCACTTCCTGTAACAGGA | XP_011516445.1:n.1023+200_1023+217delinsGCACTTCCTGTAACAGGA | |
| XM_011518145.2:c.882+200_882+217delinsGCACTTCCTGTAACAGGA | XP_011516447.1:n.882+200_882+217delinsGCACTTCCTGTAACAGGA | |
| XM_017014205.2:c.141+200_141+217delinsGCACTTCCTGTAACAGGA | XP_016869694.1:n.141+200_141+217delinsGCACTTCCTGTAACAGGA | |
| XM_024447380.1:c.141+200_141+217delinsGCACTTCCTGTAACAGGA | XP_024303148.1:n.141+200_141+217delinsGCACTTCCTGTAACAGGA | |
| XM_024447381.1:c.447+200_447+217delinsGCACTTCCTGTAACAGGA | XP_024303149.1:n.447+200_447+217delinsGCACTTCCTGTAACAGGA | |
| XM_024447382.1:c.141+200_141+217delinsGCACTTCCTGTAACAGGA | XP_024303150.1:n.141+200_141+217delinsGCACTTCCTGTAACAGGA | |
| XR_001746160.2:n.1442+200_1442+217delinsGCACTTCCTGTAACAGGA | ||
| XR_001746162.2:n.1508+200_1508+217delinsGCACTTCCTGTAACAGGA | ||
| XR_001746164.1:n.1225+200_1225+217delinsGCACTTCCTGTAACAGGA | ||
| XR_001746166.2:n.1659+200_1659+217delinsGCACTTCCTGTAACAGGA | ||
| NM_001077365.2:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA MANE Select | NP_001070833.1:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | |
| NM_001077366.2:c.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | NP_001070834.1:n.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | |
| NM_001136113.2:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | NP_001129585.1:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | |
| NM_001136114.2:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | NP_001129586.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353193.2:c.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | NP_001340122.2:n.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353194.2:c.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | NP_001340123.1:n.1110+200_1110+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353195.2:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | NP_001340124.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353196.2:c.1182+200_1182+217delinsGCACTTCCTGTAACAGGA | NP_001340125.1:n.1182+200_1182+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353197.2:c.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | NP_001340126.2:n.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353198.2:c.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | NP_001340127.2:n.1176+200_1176+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353199.2:c.987+200_987+217delinsGCACTTCCTGTAACAGGA | NP_001340128.2:n.987+200_987+217delinsGCACTTCCTGTAACAGGA | |
| NM_001353200.2:c.816+200_816+217delinsGCACTTCCTGTAACAGGA | NP_001340129.1:n.816+200_816+217delinsGCACTTCCTGTAACAGGA | |
| NM_001374689.1:c.1260+200_1260+217delinsGCACTTCCTGTAACAGGA | NP_001361618.1:n.1260+200_1260+217delinsGCACTTCCTGTAACAGGA | |
| NM_001374690.1:c.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | NP_001361619.1:n.1272+200_1272+217delinsGCACTTCCTGTAACAGGA | |
| NM_001374691.1:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | NP_001361620.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| NM_001374692.1:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | NP_001361621.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| NM_001374693.1:c.921+200_921+217delinsGCACTTCCTGTAACAGGA | NP_001361622.1:n.921+200_921+217delinsGCACTTCCTGTAACAGGA | |
| NM_001374695.1:c.882+200_882+217delinsGCACTTCCTGTAACAGGA | NP_001361624.1:n.882+200_882+217delinsGCACTTCCTGTAACAGGA | |
| NM_007171.4:c.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | NP_009102.4:n.1338+200_1338+217delinsGCACTTCCTGTAACAGGA | |
| NR_148391.2:n.1306+200_1306+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148392.2:n.1524+200_1524+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148393.2:n.1306+200_1306+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148394.2:n.1199+200_1199+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148395.2:n.1458+200_1458+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148396.2:n.1092+200_1092+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148397.2:n.1356+200_1356+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148398.2:n.1311+200_1311+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148399.2:n.1698+200_1698+217delinsGCACTTCCTGTAACAGGA | ||
| NR_148400.2:n.1297+200_1297+217delinsGCACTTCCTGTAACAGGA |