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_000003.12:g.37007050_37007057del , CM000665.2:g.37007050_37007057del | GRCh38 |
| NC_000003.11:g.37048541_37048548del , CM000665.1:g.37048541_37048548del | GRCh37 |
| NC_000003.10:g.37023545_37023552del | NCBI36 |
| NG_007109.2:g.18701_18708del , LRG_216:g.18701_18708del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.440_447del | ENSP00000416476.2:p.Gly147AspfsTer22 | |
| ENST00000429117.6:c.146_153del | ENSP00000407019.2:p.Gly49AspfsTer22 | |
| ENST00000450420.6:c.440_447del | ENSP00000393006.2:p.Gly147AspfsTer22 | |
| ENST00000456676.7:c.440_447del | ENSP00000416687.3:p.Gly147AspfsTer22 | |
| ENST00000458009.6:c.440_447del | ENSP00000411066.2:p.Gly147AspfsTer22 | |
| ENST00000492474.6:c.-284_-277del | ENSP00000518393.1:n.-284_-277del | |
| ENST00000616768.6:c.440_447del | ENSP00000480669.3:p.Gly147AspfsTer22 | |
| ENST00000673673.2:c.440_447del | ENSP00000500979.2:p.Gly147AspfsTer22 | |
| ENST00000231790.8:c.440_447del MANE Select | ENSP00000231790.3:p.Gly147AspfsTer22 | |
| ENST00000413212.2:c.-284_-277del | ENSP00000400844.2:n.-284_-277del | |
| ENST00000432299.6:c.*520_*527del | ENSP00000416783.1:n.*520_*527del | |
| ENST00000441265.6:c.-284_-277del | ENSP00000398392.2:n.-284_-277del | |
| ENST00000442249.6:n.455_462del | ||
| ENST00000447829.6:c.77_84del | ENSP00000399329.2:p.Gly26AspfsTer22 | |
| ENST00000539477.6:c.-192_-185del | ENSP00000443665.1:n.-192_-185del | |
| ENST00000673673.1:c.393_400del | ||
| ENST00000673713.1:n.471_478del | ||
| ENST00000673715.1:c.440_447del | ENSP00000501301.1:p.Gly147AspfsTer22 | |
| ENST00000673897.1:c.*232_*239del | ENSP00000501109.1:n.*232_*239del | |
| ENST00000673899.1:c.440_447del | ENSP00000501030.1:p.Gly147AspfsTer22 | |
| ENST00000673947.1:c.*580_*587del | ENSP00000501304.1:n.*580_*587del | |
| ENST00000673972.1:c.*318_*325del | ENSP00000501281.1:n.*318_*325del | |
| ENST00000673990.1:n.425_432del | ||
| ENST00000674019.1:c.-284_-277del | ENSP00000501081.1:n.-284_-277del | |
| ENST00000674107.1:n.382_389del | ||
| ENST00000674111.1:c.440_447del | ENSP00000501162.1:p.Gly147AspfsTer22 | |
| ENST00000231790.6:c.440_447del | ENSP00000231790.2:p.Gly147AspfsTer22 | |
| ENST00000429117.5:c.146_153del | ENSP00000407019.1:p.Gly49AspfsTer22 | |
| ENST00000432299.5:c.*520_*527del | ENSP00000416783.1:n.*520_*527del | |
| ENST00000435176.5:c.146_153del | ENSP00000402564.1:p.Gly49AspfsTer22 | |
| ENST00000441265.5:c.-192_-185del | ENSP00000398392.1:n.-192_-185del | |
| ENST00000442249.5:c.*232_*239del | ENSP00000387511.1:n.*232_*239del | |
| ENST00000454028.5:c.*313_*320del | ENSP00000392649.1:n.*313_*320del | |
| ENST00000455445.6:c.-284_-277del | ENSP00000398272.2:n.-284_-277del | |
| ENST00000456676.6:c.415_422del | ||
| ENST00000457004.5:c.*219_*226del | ENSP00000407773.1:n.*219_*226del | |
| ENST00000458205.6:c.-284_-277del | ENSP00000402667.2:n.-284_-277del | |
| ENST00000466900.5:n.473_480del | ||
| ENST00000485889.1:n.444_451del | ||
| ENST00000492474.5:n.463_470del | ||
| ENST00000536378.5:c.-284_-277del | ENSP00000444286.2:n.-284_-277del | |
| ENST00000539477.5:c.-192_-185del | ENSP00000443665.1:n.-192_-185del | |
| NM_000249.3:c.440_447del , LRG_216t1:c.440_447del | NP_000240.1:p.Gly147AspfsTer22 | |
| NM_001167617.1:c.146_153del | NP_001161089.1:p.Gly49AspfsTer22 | |
| NM_001167618.1:c.-284_-277del | NP_001161090.1:n.-284_-277del | |
| NM_001167619.1:c.-192_-185del | NP_001161091.1:n.-192_-185del | |
| NM_001258271.1:c.440_447del | NP_001245200.1:p.Gly147AspfsTer22 | |
| NM_001258273.1:c.-284_-277del | NP_001245202.1:n.-284_-277del | |
| NM_001258274.1:c.-284_-277del | NP_001245203.1:n.-284_-277del | |
| XM_005265161.1:c.440_447del | XP_005265218.1:p.Gly147AspfsTer22 | |
| XM_005265163.1:c.-284_-277del | XP_005265220.1:n.-284_-277del | |
| XM_005265164.1:c.-284_-277del | XP_005265221.1:n.-284_-277del | |
| XM_005265166.1:c.-490_-483del | XP_005265223.1:n.-490_-483del | |
| XM_011533727.1:c.-387_-380del | XP_011532029.1:n.-387_-380del | |
| NM_001167617.2:c.146_153del | NP_001161089.1:p.Gly49AspfsTer22 | |
| NM_001167618.2:c.-284_-277del | NP_001161090.1:n.-284_-277del | |
| NM_001167619.2:c.-192_-185del | NP_001161091.1:n.-192_-185del | |
| NM_001258274.2:c.-284_-277del | NP_001245203.1:n.-284_-277del | |
| NM_001354615.1:c.-192_-185del | NP_001341544.1:n.-192_-185del | |
| NM_001354616.1:c.-192_-185del | NP_001341545.1:n.-192_-185del | |
| NM_001354617.1:c.-284_-277del | NP_001341546.1:n.-284_-277del | |
| NM_001354618.1:c.-284_-277del | NP_001341547.1:n.-284_-277del | |
| NM_001354619.1:c.-284_-277del | NP_001341548.1:n.-284_-277del | |
| NM_001354620.1:c.146_153del | NP_001341549.1:p.Gly49AspfsTer22 | |
| NM_001354621.1:c.-377_-370del | NP_001341550.1:n.-377_-370del | |
| NM_001354622.1:c.-490_-483del | NP_001341551.1:n.-490_-483del | |
| NM_001354623.1:c.-490_-483del | NP_001341552.1:n.-490_-483del | |
| NM_001354624.1:c.-387_-380del | NP_001341553.1:n.-387_-380del | |
| NM_001354625.1:c.-295_-288del | NP_001341554.1:n.-295_-288del | |
| NM_001354626.1:c.-387_-380del | NP_001341555.1:n.-387_-380del | |
| NM_001354627.1:c.-387_-380del | NP_001341556.1:n.-387_-380del | |
| NM_001354628.1:c.440_447del | NP_001341557.1:p.Gly147AspfsTer22 | |
| NM_001354629.1:c.341_348del | NP_001341558.1:p.Gly114AspfsTer22 | |
| NM_001354630.1:c.440_447del | NP_001341559.1:p.Gly147AspfsTer22 | |
| XM_005265161.2:c.440_447del | XP_005265218.1:p.Gly147AspfsTer22 | |
| XM_017006450.2:c.-377_-370del | XP_016861939.1:n.-377_-370del | |
| NM_000249.4:c.440_447del MANE Select | NP_000240.1:p.Gly147AspfsTer22 | |
| NM_001167617.3:c.146_153del | NP_001161089.1:p.Gly49AspfsTer22 | |
| NM_001167618.3:c.-284_-277del | NP_001161090.1:n.-284_-277del | |
| NM_001167619.3:c.-192_-185del | NP_001161091.1:n.-192_-185del | |
| NM_001258271.2:c.440_447del | NP_001245200.1:p.Gly147AspfsTer22 | |
| NM_001258273.2:c.-284_-277del | NP_001245202.1:n.-284_-277del | |
| NM_001258274.3:c.-284_-277del | NP_001245203.1:n.-284_-277del | |
| NM_001354615.2:c.-192_-185del | NP_001341544.1:n.-192_-185del | |
| NM_001354616.2:c.-192_-185del | NP_001341545.1:n.-192_-185del | |
| NM_001354617.2:c.-284_-277del | NP_001341546.1:n.-284_-277del | |
| NM_001354618.2:c.-284_-277del | NP_001341547.1:n.-284_-277del | |
| NM_001354619.2:c.-284_-277del | NP_001341548.1:n.-284_-277del | |
| NM_001354620.2:c.146_153del | NP_001341549.1:p.Gly49AspfsTer22 | |
| NM_001354621.2:c.-377_-370del | NP_001341550.1:n.-377_-370del | |
| NM_001354622.2:c.-490_-483del | NP_001341551.1:n.-490_-483del | |
| NM_001354623.2:c.-490_-483del | NP_001341552.1:n.-490_-483del | |
| NM_001354624.2:c.-387_-380del | NP_001341553.1:n.-387_-380del | |
| NM_001354625.2:c.-295_-288del | NP_001341554.1:n.-295_-288del | |
| NM_001354626.2:c.-387_-380del | NP_001341555.1:n.-387_-380del | |
| NM_001354627.2:c.-387_-380del | NP_001341556.1:n.-387_-380del | |
| NM_001354628.2:c.440_447del | NP_001341557.1:p.Gly147AspfsTer22 | |
| NM_001354629.2:c.341_348del | NP_001341558.1:p.Gly114AspfsTer22 | |
| NM_001354630.2:c.440_447del | NP_001341559.1:p.Gly147AspfsTer22 |