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_000002.12:g.47800756_47800757insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC , CM000664.2:g.47800756_47800757insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC | GRCh38 |
| NC_000002.11:g.48027895_48027896insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC , CM000664.1:g.48027895_48027896insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC | GRCh37 |
| NC_000002.10:g.47881399_47881400insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC | NCBI36 |
| NG_007111.1:g.22610_22611insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC , LRG_219:g.22610_22611insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2476_2477insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000406248.2:p.Gly826GlufsTer33 | |
| ENST00000420813.6:c.2476_2477insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000390382.2:p.Gly826GlufsTer33 | |
| ENST00000455383.6:c.2476_2477insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000397484.2:p.Gly826GlufsTer33 | |
| ENST00000700004.2:c.2773_2774insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000514752.2:p.Gly925GlufsTer33 | |
| ENST00000699999.1:n.2857_2858insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ||
| ENST00000700000.1:c.1606+1167_1606+1168insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000514749.1:n.1606+1167_1606+1168insAGCAGGGCGTAGACGACAA... | |
| ENST00000700002.1:c.2779_2780insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000514750.1:p.Gly927GlufsTer33 | |
| ENST00000700003.1:c.628-2664_628-2663insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000514751.1:n.628-2664_628-2663insAGCAGGGCGTAGACGACAAAC... | |
| ENST00000700004.1:c.1930_1931insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000514752.1:p.Gly644GlufsTer33 | |
| ENST00000234420.11:c.2773_2774insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) MANE Select | ENSP00000234420.5:p.Gly925GlufsTer33 | |
| ENST00000540021.6:c.2383_2384insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000446475.1:p.Gly795GlufsTer33 | |
| ENST00000652107.1:c.2476_2477insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000498629.1:p.Gly826GlufsTer33 | |
| ENST00000673637.1:c.2476_2477insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000501310.1:p.Gly826GlufsTer33 | |
| ENST00000234420.9:c.2773_2774insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000234420.4:p.Gly925GlufsTer33 | |
| ENST00000405808.5:c.169+7438_169+7439insGCGCCATCTTCTGGATGCTCTTACTTGCCGAACTCGGTATGGTGATTTATCTCTCGGCACGCATCATGTCGATGTCGTTTGCCACGGCCGGCATCGTGTTTGTCGTCTACGCCCTGCT (FBXO11) | ENSP00000385127.1:n.169+7438_169+7439insGCGCCATCTTCTGGATGCTCT... | |
| ENST00000434234.5:c.*124+7237_*124+7238insGCGCCATCTTCTGGATGCTCTTACTTGCCGAACTCGGTATGGTGATTTATCTCTCGGCACGCATCATGTCGATGTCGTTTGCCACGGCCGGCATCGTGTTTGTCGTCTACGCCCTGCT (FBXO11) | ENSP00000402692.1:n.*124+7237_*124+7238insGCGCCATCTTCTGGATGCT... | |
| ENST00000445503.5:c.*2120_*2121insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000405294.1:n.*2120_*2121insAGCAGGGCGTAGACGACAAACACGATG... | |
| ENST00000538136.1:c.1867_1868insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000438580.1:p.Gly623GlufsTer33 | |
| ENST00000540021.5:c.2383_2384insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000446475.1:p.Gly795GlufsTer33 | |
| ENST00000614496.4:c.1867_1868insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000477844.1:p.Gly623GlufsTer33 | |
| ENST00000616033.4:c.2770_2771insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000480261.1:p.Gly924GlufsTer33 | |
| ENST00000622629.4:c.-324_-323insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | ENSP00000482078.1:n.-324_-323insAGCAGGGCGTAGACGACAAACACGATGCC... | |
| NM_000179.2:c.2773_2774insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC , LRG_219t1:c.2773_2774insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | NP_000170.1:p.Gly925GlufsTer33 | |
| NM_001281492.1:c.2383_2384insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | NP_001268421.1:p.Gly795GlufsTer33 | |
| NM_001281493.1:c.1867_1868insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | NP_001268422.1:p.Gly623GlufsTer33 | |
| NM_001281494.1:c.1867_1868insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | NP_001268423.1:p.Gly623GlufsTer33 | |
| XM_005264271.1:c.2476_2477insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | XP_005264328.1:p.Gly826GlufsTer33 | |
| XM_011532798.1:c.2590_2591insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | XP_011531100.1:p.Gly864GlufsTer33 | |
| XM_011532799.1:c.2476_2477insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | XP_011531101.1:p.Gly826GlufsTer33 | |
| XM_011532800.1:c.2476_2477insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | XP_011531102.1:p.Gly826GlufsTer33 | |
| XM_024452819.1:c.2773_2774insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | XP_024308587.1:p.Gly925GlufsTer33 | |
| XM_024452820.1:c.2590_2591insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | XP_024308588.1:p.Gly864GlufsTer33 | |
| XM_024452821.1:c.2476_2477insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | XP_024308589.1:p.Gly826GlufsTer33 | |
| XM_024452822.1:c.1867_1868insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | XP_024308590.1:p.Gly623GlufsTer33 | |
| NM_000179.3:c.2773_2774insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) MANE Select | NP_000170.1:p.Gly925GlufsTer33 | |
| NM_001281492.2:c.2383_2384insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | NP_001268421.1:p.Gly795GlufsTer33 | |
| NM_001281493.2:c.1867_1868insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | NP_001268422.1:p.Gly623GlufsTer33 | |
| NM_001281494.2:c.1867_1868insAGCAGGGCGTAGACGACAAACACGATGCCGGCCGTGGCAAACGACATCGACATGATGCGTGCCGAGAGATAAATCACCATACCGAGTTCGGCAAGTAAGAGCATCCAGAAGATGGCGC (MSH6) | NP_001268423.1:p.Gly623GlufsTer33 |