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 allow 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 allow 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_000008.11:g.143916324_143916360delinsGGCCCGGGAGCCGGTGCGCGAGCCGGTGCGGGAGCCA , CM000670.2:g.143916324_143916360delinsGGCCCGGGAGCCGGTGCGCGAGCCGGTGCGGGAGCCA | GRCh38 |
| NC_000008.10:g.144990492_144990528delinsGGCCCGGGAGCCGGTGCGCGAGCCGGTGCGGGAGCCA , CM000670.1:g.144990492_144990528delinsGGCCCGGGAGCCGGTGCGCGAGCCGGTGCGGGAGCCA | GRCh37 |
| NC_000008.9:g.145062480_145062516delinsGGCCCGGGAGCCGGTGCGCGAGCCGGTGCGGGAGCCA | NCBI36 |
| NG_012492.1:g.65386_65422delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.13593_13629delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000437303.2:p.Ala4531= | |
| ENST00000685198.1:c.13512_13548delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000510528.1:p.Ala4504= | |
| ENST00000687971.1:c.13179_13215delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000510788.1:p.Ala4393= | |
| ENST00000693060.1:c.13392_13428delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000510329.1:p.Ala4464= | |
| ENST00000345136.8:c.13461_13497delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC MANE Select | ENSP00000344848.3:p.Ala4487= | |
| ENST00000527303.2:c.10161_10197delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000433982.2:p.Ala3387= | |
| ENST00000322810.8:c.13872_13908delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000323856.4:p.Ala4624= | |
| ENST00000345136.7:c.13461_13497delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000344848.3:p.Ala4487= | |
| ENST00000354589.7:c.13461_13497delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000346602.3:p.Ala4487= | |
| ENST00000354958.6:c.13395_13431delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000347044.2:p.Ala4465= | |
| ENST00000356346.7:c.13419_13455delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC MANE Plus Clinical | ENSP00000348702.3:p.Ala4473= | |
| ENST00000357649.6:c.13473_13509delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000350277.2:p.Ala4491= | |
| ENST00000398774.6:c.13365_13401delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000381756.2:p.Ala4455= | |
| ENST00000436759.6:c.13542_13578delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000388180.2:p.Ala4514= | |
| ENST00000527096.5:c.13530_13566delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | ENSP00000434583.1:p.Ala4510= | |
| NM_000445.4:c.13542_13578delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_000436.2:p.Ala4514= | |
| NM_201378.3:c.13419_13455delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958780.1:p.Ala4473= | |
| NM_201379.2:c.13395_13431delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958781.1:p.Ala4465= | |
| NM_201380.3:c.13872_13908delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958782.1:p.Ala4624= | |
| NM_201381.2:c.13365_13401delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958783.1:p.Ala4455= | |
| NM_201382.3:c.13461_13497delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958784.1:p.Ala4487= | |
| NM_201383.2:c.13473_13509delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958785.1:p.Ala4491= | |
| NM_201384.2:c.13461_13497delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958786.1:p.Ala4487= | |
| XM_005250976.2:c.13887_13923delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251033.1:p.Ala4629= | |
| XM_005250978.2:c.13488_13524delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251035.1:p.Ala4496= | |
| XM_005250979.3:c.13476_13512delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251036.1:p.Ala4492= | |
| XM_005250980.3:c.13476_13512delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251037.1:p.Ala4492= | |
| XM_005250981.2:c.13434_13470delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251038.1:p.Ala4478= | |
| XM_005250982.2:c.13410_13446delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251039.1:p.Ala4470= | |
| XM_005250983.2:c.13392_13428delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251040.1:p.Ala4464= | |
| XM_005250984.3:c.13380_13416delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251041.1:p.Ala4460= | |
| XM_006716588.2:c.13557_13593delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_006716651.1:p.Ala4519= | |
| XM_006716589.2:c.13407_13443delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_006716652.1:p.Ala4469= | |
| XM_006716590.2:c.13407_13443delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_006716653.1:p.Ala4469= | |
| XM_011517130.1:c.13476_13512delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_011515432.1:p.Ala4492= | |
| XM_011517131.1:c.13392_13428delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_011515433.1:p.Ala4464= | |
| XM_011517132.1:c.10107_10143delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_011515434.1:p.Ala3369= | |
| XM_005250976.4:c.13887_13923delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251033.1:p.Ala4629= | |
| XM_005250978.3:c.13488_13524delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251035.1:p.Ala4496= | |
| XM_005250979.4:c.13476_13512delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251036.1:p.Ala4492= | |
| XM_005250980.4:c.13476_13512delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251037.1:p.Ala4492= | |
| XM_005250981.3:c.13434_13470delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251038.1:p.Ala4478= | |
| XM_005250982.4:c.13410_13446delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251039.1:p.Ala4470= | |
| XM_005250984.5:c.13380_13416delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_005251041.1:p.Ala4460= | |
| XM_006716588.3:c.13557_13593delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_006716651.1:p.Ala4519= | |
| XM_006716590.3:c.13407_13443delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_006716653.1:p.Ala4469= | |
| XM_011517130.2:c.13476_13512delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_011515432.1:p.Ala4492= | |
| XM_011517131.2:c.13392_13428delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_011515433.1:p.Ala4464= | |
| XM_011517132.2:c.10107_10143delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | XP_011515434.1:p.Ala3369= | |
| NM_000445.5:c.13542_13578delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_000436.2:p.Ala4514= | |
| NM_201378.4:c.13419_13455delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC MANE Plus Clinical | NP_958780.1:p.Ala4473= | |
| NM_201379.3:c.13395_13431delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958781.1:p.Ala4465= | |
| NM_201380.4:c.13872_13908delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958782.1:p.Ala4624= | |
| NM_201381.3:c.13365_13401delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958783.1:p.Ala4455= | |
| NM_201382.4:c.13461_13497delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958784.1:p.Ala4487= | |
| NM_201383.3:c.13473_13509delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC | NP_958785.1:p.Ala4491= | |
| NM_201384.3:c.13461_13497delinsTGGCTCCCGCACCGGCTCGCGCACCGGCTCCCGGGCC MANE Select | NP_958786.1:p.Ala4487= |