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.71570750_71570751insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT , CM000664.2:g.71570750_71570751insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | GRCh38 |
| NC_000002.11:g.71797880_71797881insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT , CM000664.1:g.71797880_71797881insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | GRCh37 |
| NC_000002.10:g.71651388_71651389insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NCBI36 |
| NG_008694.1:g.122128_122129insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.600+9_600+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000513536.1:n.600+9_600+10insTACTTACGGTCGACTTTCTAGTCGCA... | |
| ENST00000258104.8:c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT MANE Plus Clinical | ENSP00000258104.3:n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000410020.8:c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT MANE Select | ENSP00000386881.3:n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000258104.7:c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000258104.3:n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000394120.6:c.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000377678.2:n.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000409366.5:c.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000386512.1:n.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000409582.7:c.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000386547.3:n.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000409651.5:c.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000386683.1:n.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000409744.5:c.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000386285.1:n.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000409762.5:c.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000387137.1:n.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000410020.7:c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000386881.3:n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000410041.1:c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000386617.1:n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000413539.6:c.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000407046.2:n.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000429174.6:c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ENSP00000398305.2:n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCG... | |
| ENST00000461565.1:n.349_350insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ||
| NM_001130455.1:c.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001123927.1:n.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130976.1:c.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124448.1:n.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130977.1:c.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124449.1:n.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130978.1:c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124450.1:n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130979.1:c.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124451.1:n.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130980.1:c.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124452.1:n.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130981.1:c.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124453.1:n.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130982.1:c.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124454.1:n.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130983.1:c.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124455.1:n.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130984.1:c.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124456.1:n.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130985.1:c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124457.1:n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130986.1:c.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124458.1:n.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130987.1:c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124459.1:n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_003494.3:c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_003485.1:n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCA... | |
| XM_005264584.3:c.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | XP_005264641.1:n.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| XM_005264585.3:c.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | XP_005264642.1:n.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| XM_005264584.4:c.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | XP_005264641.1:n.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| XM_005264585.5:c.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | XP_005264642.1:n.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| XR_001738969.1:n.3428+9_3428+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | ||
| NM_001130987.2:c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT MANE Select | NP_001124459.1:n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130455.2:c.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001123927.1:n.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130976.2:c.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124448.1:n.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130977.2:c.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124449.1:n.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130978.2:c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124450.1:n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130979.2:c.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124451.1:n.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130980.2:c.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124452.1:n.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130981.2:c.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124453.1:n.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130982.2:c.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124454.1:n.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130983.2:c.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124455.1:n.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130984.2:c.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124456.1:n.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130985.2:c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124457.1:n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_001130986.2:c.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | NP_001124458.1:n.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCAC... | |
| NM_003494.4:c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT MANE Plus Clinical | NP_003485.1:n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCA... |