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_000009.12:g.4118614_4118615insGATCGCCAGAAGGAGATCAAGAACGAGCTGGAGCGAGAACTGGTGCAGGTCCAGTGGGCACCGCGTATCAACCTGGC , CM000671.2:g.4118614_4118615insGATCGCCAGAAGGAGATCAAGAACGAGCTGGAGCGAGAACTGGTGCAGGTCCAGTGGGCACCGCGTATCAACCTGGC | GRCh38 |
| NC_000009.11:g.4118614_4118615insGATCGCCAGAAGGAGATCAAGAACGAGCTGGAGCGAGAACTGGTGCAGGTCCAGTGGGCACCGCGTATCAACCTGGC , CM000671.1:g.4118614_4118615insGATCGCCAGAAGGAGATCAAGAACGAGCTGGAGCGAGAACTGGTGCAGGTCCAGTGGGCACCGCGTATCAACCTGGC | GRCh37 |
| NC_000009.10:g.4108614_4108615insGATCGCCAGAAGGAGATCAAGAACGAGCTGGAGCGAGAACTGGTGCAGGTCCAGTGGGCACCGCGTATCAACCTGGC | NCBI36 |
| NG_011782.1:g.186421_186422insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | |
| NG_011782.2:g.186421_186422insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491889.6:c.*226_*227insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ENSP00000419914.1:n.*226_*227insGCCAGGTTGATACGCGGTGCCCACTGGAC... | |
| ENST00000645252.2:n.152+32325_152+32326insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ||
| ENST00000682749.1:c.398_399insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ENSP00000507306.1:p.His133GlnfsTer4 | |
| ENST00000682846.1:c.131+7119_131+7120insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ENSP00000507527.1:n.131+7119_131+7120insGCCAGGTTGATACGCGGTGCC... | |
| ENST00000381971.8:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC MANE Select | ENSP00000371398.3:p.His288GlnfsTer4 | |
| ENST00000645252.1:n.152+32325_152+32326insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ||
| ENST00000324333.14:c.398_399insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ENSP00000325494.10:p.His133GlnfsTer4 | |
| ENST00000381971.7:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ENSP00000371398.3:p.His288GlnfsTer4 | |
| ENST00000490709.1:n.683_684insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ||
| NM_001042413.1:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | NP_001035878.1:p.His288GlnfsTer4 | |
| NM_152629.3:c.398_399insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | NP_689842.3:p.His133GlnfsTer4 | |
| XM_005251386.3:c.398_399insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_005251443.1:p.His133GlnfsTer4 | |
| XM_005251387.3:c.197_198insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_005251444.1:p.His66GlnfsTer4 | |
| XM_005251388.3:c.197_198insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_005251445.1:p.His66GlnfsTer4 | |
| XM_005251389.3:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_005251446.1:p.His288GlnfsTer4 | |
| XM_006716731.2:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_006716794.1:p.His288GlnfsTer4 | |
| XM_011517763.1:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516065.1:p.His288GlnfsTer4 | |
| XM_011517764.1:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516066.1:p.His288GlnfsTer4 | |
| XM_011517765.1:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516067.1:p.His288GlnfsTer4 | |
| XM_011517766.1:c.398_399insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516068.1:p.His133GlnfsTer4 | |
| XM_011517767.1:c.197_198insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516069.1:p.His66GlnfsTer4 | |
| XM_011517768.1:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516070.1:p.His288GlnfsTer4 | |
| XM_011517769.1:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516071.1:p.His288GlnfsTer4 | |
| XR_929206.1:n.1629_1630insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ||
| XM_005251386.4:c.398_399insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_005251443.1:p.His133GlnfsTer4 | |
| XM_005251387.4:c.197_198insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_005251444.1:p.His66GlnfsTer4 | |
| XM_005251388.4:c.197_198insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_005251445.1:p.His66GlnfsTer4 | |
| XM_005251389.5:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_005251446.1:p.His288GlnfsTer4 | |
| XM_006716731.3:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_006716794.1:p.His288GlnfsTer4 | |
| XM_011517763.2:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516065.1:p.His288GlnfsTer4 | |
| XM_011517764.2:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516066.1:p.His288GlnfsTer4 | |
| XM_011517765.2:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516067.1:p.His288GlnfsTer4 | |
| XM_011517766.2:c.398_399insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516068.1:p.His133GlnfsTer4 | |
| XM_011517767.3:c.197_198insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516069.1:p.His66GlnfsTer4 | |
| XM_011517769.2:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_011516071.1:p.His288GlnfsTer4 | |
| XM_017014361.1:c.398_399insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | XP_016869850.1:p.His133GlnfsTer4 | |
| XR_929206.2:n.1625_1626insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | ||
| NM_001042413.2:c.863_864insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC MANE Select | NP_001035878.1:p.His288GlnfsTer4 | |
| NM_152629.4:c.398_399insGCCAGGTTGATACGCGGTGCCCACTGGACCTGCACCAGTTCTCGCTCCAGCTCGTTCTTGATCTCCTTCTGGCGATC | NP_689842.3:p.His133GlnfsTer4 |