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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993611_36993612insC , CM000665.2:g.36993611_36993612insC | GRCh38 |
| NC_000003.11:g.37035102_37035103insC , CM000665.1:g.37035102_37035103insC | GRCh37 |
| NC_000003.10:g.37010106_37010107insC | NCBI36 |
| NG_007109.2:g.5262_5263insC , LRG_216:g.5262_5263insC | |
| NG_008418.1:g.4693_4694insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.64_65insC | ENSP00000416476.2:p.Gly22AlafsTer9 | |
| ENST00000450420.6:c.64_65insC | ENSP00000393006.2:p.Gly22AlafsTer9 | |
| ENST00000456676.7:c.64_65insC | ENSP00000416687.3:p.Gly22AlafsTer9 | |
| ENST00000458009.6:c.64_65insC | ENSP00000411066.2:p.Gly22AlafsTer9 | |
| ENST00000616768.6:c.64_65insC | ENSP00000480669.3:p.Gly22AlafsTer9 | |
| ENST00000673673.2:c.64_65insC | ENSP00000500979.2:p.Gly22AlafsTer9 | |
| ENST00000231790.8:c.64_65insC MANE Select | ENSP00000231790.3:p.Gly22AlafsTer9 | |
| ENST00000432299.6:c.64_65insC | ENSP00000416783.1:p.Gly22AlafsTer9 | |
| ENST00000442249.6:n.79_80insC | ||
| ENST00000673673.1:c.17_18insC | ||
| ENST00000673713.1:n.95_96insC | ||
| ENST00000673715.1:c.64_65insC | ENSP00000501301.1:p.Gly22AlafsTer9 | |
| ENST00000673897.1:c.64_65insC | ENSP00000501109.1:p.Gly22AlafsTer9 | |
| ENST00000673899.1:c.64_65insC | ENSP00000501030.1:p.Gly22AlafsTer9 | |
| ENST00000673947.1:c.64_65insC | ENSP00000501304.1:p.Gly22AlafsTer9 | |
| ENST00000673972.1:c.64_65insC | ENSP00000501281.1:p.Gly22AlafsTer9 | |
| ENST00000674111.1:c.64_65insC | ENSP00000501162.1:p.Gly22AlafsTer9 | |
| ENST00000231790.6:c.64_65insC | ENSP00000231790.2:p.Gly22AlafsTer9 | |
| ENST00000432299.5:c.64_65insC | ENSP00000416783.1:p.Gly22AlafsTer9 | |
| ENST00000442249.5:c.64_65insC | ENSP00000387511.1:p.Gly22AlafsTer9 | |
| ENST00000454028.5:c.64_65insC | ENSP00000392649.1:p.Gly22AlafsTer9 | |
| ENST00000456676.6:c.39_40insC | ||
| ENST00000457004.5:c.64_65insC | ENSP00000407773.1:p.Gly22AlafsTer9 | |
| ENST00000536378.5:c.-569_-568insC | ENSP00000444286.2:n.-569_-568insC | |
| NM_000249.3:c.64_65insC , LRG_216t1:c.64_65insC | NP_000240.1:p.Gly22AlafsTer9 | |
| NM_001258271.1:c.64_65insC | NP_001245200.1:p.Gly22AlafsTer9 | |
| NM_001258273.1:c.-569_-568insC | NP_001245202.1:n.-569_-568insC | |
| XM_005265161.1:c.64_65insC | XP_005265218.1:p.Gly22AlafsTer9 | |
| XM_005265164.1:c.-655_-654insC | XP_005265221.1:n.-655_-654insC | |
| NM_001167617.2:c.-453_-452insC | NP_001161089.1:n.-453_-452insC | |
| NM_001167618.2:c.-882_-881insC | NP_001161090.1:n.-882_-881insC | |
| NM_001167619.2:c.-795_-794insC | NP_001161091.1:n.-795_-794insC | |
| NM_001258274.2:c.-1032_-1031insC | NP_001245203.1:n.-1032_-1031insC | |
| NM_001354615.1:c.-563_-562insC | NP_001341544.1:n.-563_-562insC | |
| NM_001354616.1:c.-563_-562insC | NP_001341545.1:n.-563_-562insC | |
| NM_001354617.1:c.-655_-654insC | NP_001341546.1:n.-655_-654insC | |
| NM_001354618.1:c.-887_-886insC | NP_001341547.1:n.-887_-886insC | |
| NM_001354619.1:c.-1011_-1010insC | NP_001341548.1:n.-1011_-1010insC | |
| NM_001354620.1:c.-221_-220insC | NP_001341549.1:n.-221_-220insC | |
| NM_001354621.1:c.-980_-979insC | NP_001341550.1:n.-980_-979insC | |
| NM_001354622.1:c.-1093_-1092insC | NP_001341551.1:n.-1093_-1092insC | |
| NM_001354623.1:c.-1002_-1001insC | NP_001341552.1:n.-1002_-1001insC | |
| NM_001354624.1:c.-763_-762insC | NP_001341553.1:n.-763_-762insC | |
| NM_001354625.1:c.-661_-660insC | NP_001341554.1:n.-661_-660insC | |
| NM_001354626.1:c.-758_-757insC | NP_001341555.1:n.-758_-757insC | |
| NM_001354627.1:c.-990_-989insC | NP_001341556.1:n.-990_-989insC | |
| NM_001354628.1:c.64_65insC | NP_001341557.1:p.Gly22AlafsTer9 | |
| NM_001354629.1:c.64_65insC | NP_001341558.1:p.Gly22AlafsTer9 | |
| NM_001354630.1:c.64_65insC | NP_001341559.1:p.Gly22AlafsTer9 | |
| XM_005265161.2:c.64_65insC | XP_005265218.1:p.Gly22AlafsTer9 | |
| XM_017006450.2:c.-748_-747insC | XP_016861939.1:n.-748_-747insC | |
| NM_000249.4:c.64_65insC MANE Select | NP_000240.1:p.Gly22AlafsTer9 | |
| NM_001167617.3:c.-453_-452insC | NP_001161089.1:n.-453_-452insC | |
| NM_001167618.3:c.-882_-881insC | NP_001161090.1:n.-882_-881insC | |
| NM_001167619.3:c.-795_-794insC | NP_001161091.1:n.-795_-794insC | |
| NM_001258271.2:c.64_65insC | NP_001245200.1:p.Gly22AlafsTer9 | |
| NM_001258273.2:c.-569_-568insC | NP_001245202.1:n.-569_-568insC | |
| NM_001258274.3:c.-1032_-1031insC | NP_001245203.1:n.-1032_-1031insC | |
| NM_001354615.2:c.-563_-562insC | NP_001341544.1:n.-563_-562insC | |
| NM_001354616.2:c.-563_-562insC | NP_001341545.1:n.-563_-562insC | |
| NM_001354617.2:c.-655_-654insC | NP_001341546.1:n.-655_-654insC | |
| NM_001354618.2:c.-887_-886insC | NP_001341547.1:n.-887_-886insC | |
| NM_001354619.2:c.-1011_-1010insC | NP_001341548.1:n.-1011_-1010insC | |
| NM_001354620.2:c.-221_-220insC | NP_001341549.1:n.-221_-220insC | |
| NM_001354621.2:c.-980_-979insC | NP_001341550.1:n.-980_-979insC | |
| NM_001354622.2:c.-1093_-1092insC | NP_001341551.1:n.-1093_-1092insC | |
| NM_001354623.2:c.-1002_-1001insC | NP_001341552.1:n.-1002_-1001insC | |
| NM_001354624.2:c.-763_-762insC | NP_001341553.1:n.-763_-762insC | |
| NM_001354625.2:c.-661_-660insC | NP_001341554.1:n.-661_-660insC | |
| NM_001354626.2:c.-758_-757insC | NP_001341555.1:n.-758_-757insC | |
| NM_001354627.2:c.-990_-989insC | NP_001341556.1:n.-990_-989insC | |
| NM_001354628.2:c.64_65insC | NP_001341557.1:p.Gly22AlafsTer9 | |
| NM_001354629.2:c.64_65insC | NP_001341558.1:p.Gly22AlafsTer9 | |
| NM_001354630.2:c.64_65insC | NP_001341559.1:p.Gly22AlafsTer9 |