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_000007.14:g.6005948_6006043del , CM000669.2:g.6005948_6006043del | GRCh38 |
| NC_000007.13:g.6045579_6045674del , CM000669.1:g.6045579_6045674del | GRCh37 |
| NC_000007.12:g.6012105_6012200del | NCBI36 |
| NG_008466.1:g.8064_8159del , LRG_161:g.8064_8159del | |
| NG_050738.1:g.1698_1793del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.24-12_107del | ||
| ENST00000699840.2:c.24-12_107del | ||
| ENST00000699930.2:c.24-12_107del | ||
| ENST00000406569.8:c.24-12_107del | ||
| ENST00000415839.3:n.89-12_172del | ||
| ENST00000644110.2:c.24-12_107del | ||
| ENST00000699752.1:c.24-12_107del | ||
| ENST00000699753.1:c.-377-17_-299del | ||
| ENST00000699754.1:c.24-12_107del | ||
| ENST00000699755.1:c.-377-17_-299del | ||
| ENST00000699756.1:c.24-12_107del | ||
| ENST00000699757.1:c.-187-17_-109del | ||
| ENST00000699758.1:c.24-12_107del | ||
| ENST00000699759.1:n.96-12_179del | ||
| ENST00000699760.1:c.-52-1985_-52-1890del | ENSP00000514568.1:n.-52-1985_-52-1890del | |
| ENST00000699761.1:c.-324-17_-246del | ||
| ENST00000699762.1:c.-377-17_-299del | ||
| ENST00000699763.1:c.-377-17_-299del | ||
| ENST00000699764.1:c.24-12_107del | ||
| ENST00000699765.1:c.-187-17_-109del | ||
| ENST00000699766.1:c.24-12_107del | ||
| ENST00000699767.1:c.24-12_107del | ||
| ENST00000699768.1:c.24-12_107del | ||
| ENST00000699769.1:n.104-12_187del | ||
| ENST00000699770.1:n.80-12_163del | ||
| ENST00000699811.1:c.-552-17_-474del | ||
| ENST00000699815.1:c.-377-17_-299del | ||
| ENST00000699816.1:c.-382-12_-299del | ||
| ENST00000699817.1:c.24-12_107del | ||
| ENST00000699818.1:c.-382-12_-299del | ||
| ENST00000699819.1:c.-395-12_-312del | ||
| ENST00000699820.1:c.24-12_107del | ||
| ENST00000699821.1:c.-377-17_-299del | ||
| ENST00000699822.1:c.-377-17_-299del | ||
| ENST00000699823.1:c.-189-1985_-189-1890del | ENSP00000514624.1:n.-189-1985_-189-1890del | |
| ENST00000699824.1:c.24-12_107del | ||
| ENST00000699825.1:c.-377-17_-299del | ||
| ENST00000699826.1:c.-242-1985_-242-1890del | ENSP00000514627.1:n.-242-1985_-242-1890del | |
| ENST00000699827.1:c.24-12_107del | ||
| ENST00000699828.1:c.24-12_107del | ||
| ENST00000699829.1:c.-324-17_-246del | ||
| ENST00000699830.1:c.24-12_107del | ||
| ENST00000699833.1:n.104-12_187del | ||
| ENST00000699834.1:n.235-17_313del | ||
| ENST00000699837.1:c.-274-17_-196del | ||
| ENST00000699838.1:c.191-12_*7del | ||
| ENST00000699839.1:c.210-12_293del | ||
| ENST00000699840.1:c.24-12_107del | ||
| ENST00000699916.1:c.-377-17_-299del | ||
| ENST00000699917.1:c.24-12_107del | ||
| ENST00000699918.1:c.24-12_107del | ||
| ENST00000699919.1:c.24-12_107del | ||
| ENST00000699920.1:c.24-12_107del | ||
| ENST00000699928.1:c.24-12_107del | ||
| ENST00000699929.1:c.24-12_107del | ||
| ENST00000699930.1:c.24-12_107del | ||
| ENST00000699931.1:n.135-12_218del | ||
| ENST00000699932.1:c.24-12_107del | ||
| ENST00000699933.1:n.104-12_187del | ||
| ENST00000699951.1:c.24-12_107del | ||
| ENST00000699952.1:c.24-12_107del | ||
| ENST00000699953.1:c.24-12_107del | ||
| ENST00000699954.1:c.24-12_107del | ||
| ENST00000703409.1:n.223-12_306del | ||
| ENST00000265849.12:c.24-12_107del | ||
| ENST00000642292.1:c.-242-1985_-242-1890del | ENSP00000495524.1:n.-242-1985_-242-1890del | |
| ENST00000642456.1:c.-377-17_-299del | ||
| ENST00000643595.1:c.24-12_107del | ||
| ENST00000265849.11:c.24-12_107del | ||
| ENST00000380416.5:n.103-12_186del | ||
| ENST00000382321.5:c.24-12_107del | ||
| ENST00000406569.7:n.24-12_107del | ||
| ENST00000415839.2:n.24_119del | ||
| ENST00000441476.6:c.-192-12_-109del | ||
| ENST00000469652.1:n.24-12_62+45del | ||
| NM_000535.5:c.24-12_107del , LRG_161t1:c.24-12_107del | ||
| NR_003085.2:n.111-17_189del | ||
| XM_006715742.2:c.18-12_101del | ||
| XM_011515427.1:c.69-12_152del | ||
| XM_011515428.1:c.69-12_152del | ||
| XM_011515429.1:c.-192-12_-109del | ||
| XM_011515430.1:c.-187-17_-109del | ||
| NM_000535.6:c.24-12_107del | ||
| NM_001322003.1:c.-377-17_-299del | ||
| NM_001322004.1:c.-242-1985_-242-1890del | NP_001308933.1:n.-242-1985_-242-1890del | |
| NM_001322005.1:c.-382-12_-299del | ||
| NM_001322006.1:c.24-12_107del | ||
| NM_001322007.1:c.-192-12_-109del | ||
| NM_001322008.1:c.-52-1985_-52-1890del | NP_001308937.1:n.-52-1985_-52-1890del | |
| NM_001322009.1:c.-377-17_-299del | ||
| NM_001322010.1:c.-242-1985_-242-1890del | NP_001308939.1:n.-242-1985_-242-1890del | |
| NM_001322011.1:c.-861-12_-778del | ||
| NM_001322012.1:c.-856-17_-778del | ||
| NM_001322013.1:c.-377-17_-299del | ||
| NM_001322014.1:c.24-12_107del | ||
| NM_001322015.1:c.-456-17_-378del | ||
| NR_136154.1:n.111-12_194del | ||
| XM_017012342.2:c.-756-17_-678del | ||
| XM_024446800.1:c.-377-17_-299del | ||
| NM_000535.7:c.24-12_107del | ||
| NM_001322003.2:c.-377-17_-299del | ||
| NM_001322004.2:c.-242-1985_-242-1890del | NP_001308933.1:n.-242-1985_-242-1890del | |
| NM_001322005.2:c.-382-12_-299del | ||
| NM_001322006.2:c.24-12_107del | ||
| NM_001322008.2:c.-52-1985_-52-1890del | NP_001308937.1:n.-52-1985_-52-1890del | |
| NM_001322009.2:c.-377-17_-299del | ||
| NM_001322010.2:c.-242-1985_-242-1890del | NP_001308939.1:n.-242-1985_-242-1890del | |
| NM_001322011.2:c.-861-12_-778del | ||
| NM_001322012.2:c.-856-17_-778del | ||
| NM_001322013.2:c.-377-17_-299del | ||
| NM_001322014.2:c.24-12_107del | ||
| NM_001322015.2:c.-456-17_-378del | ||
| NM_001322007.2:c.-192-12_-109del |