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.
Linked Data
gnomAD v4:
8-143916314-G-GGCGGGAGCCGGCCCGGGAGCCGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143916318_143916341dup , CM000670.2:g.143916318_143916341dup | GRCh38 |
| NC_000008.10:g.144990486_144990509dup , CM000670.1:g.144990486_144990509dup | GRCh37 |
| NC_000008.9:g.145062474_145062497dup | NCBI36 |
| NG_012492.1:g.65408_65431dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.13615_13638dup | ENSP00000437303.2:p.Arg4546_Arg4547insThrGlySerArgAlaGlySerAr... | |
| ENST00000685198.1:c.13534_13557dup | ENSP00000510528.1:p.Arg4519_Arg4520insThrGlySerArgAlaGlySerAr... | |
| ENST00000687971.1:c.13201_13224dup | ENSP00000510788.1:p.Arg4408_Arg4409insThrGlySerArgAlaGlySerAr... | |
| ENST00000693060.1:c.13414_13437dup | ENSP00000510329.1:p.Arg4479_Arg4480insThrGlySerArgAlaGlySerAr... | |
| ENST00000345136.8:c.13483_13506dup MANE Select | ENSP00000344848.3:p.Arg4502_Arg4503insThrGlySerArgAlaGlySerAr... | |
| ENST00000527303.2:c.10183_10206dup | ENSP00000433982.2:p.Arg3402_Arg3403insThrGlySerArgAlaGlySerAr... | |
| ENST00000322810.8:c.13894_13917dup | ENSP00000323856.4:p.Arg4639_Arg4640insThrGlySerArgAlaGlySerAr... | |
| ENST00000345136.7:c.13483_13506dup | ENSP00000344848.3:p.Arg4502_Arg4503insThrGlySerArgAlaGlySerAr... | |
| ENST00000354589.7:c.13483_13506dup | ENSP00000346602.3:p.Arg4502_Arg4503insThrGlySerArgAlaGlySerAr... | |
| ENST00000354958.6:c.13417_13440dup | ENSP00000347044.2:p.Arg4480_Arg4481insThrGlySerArgAlaGlySerAr... | |
| ENST00000356346.7:c.13441_13464dup MANE Plus Clinical | ENSP00000348702.3:p.Arg4488_Arg4489insThrGlySerArgAlaGlySerAr... | |
| ENST00000357649.6:c.13495_13518dup | ENSP00000350277.2:p.Arg4506_Arg4507insThrGlySerArgAlaGlySerAr... | |
| ENST00000398774.6:c.13387_13410dup | ENSP00000381756.2:p.Arg4470_Arg4471insThrGlySerArgAlaGlySerAr... | |
| ENST00000436759.6:c.13564_13587dup | ENSP00000388180.2:p.Arg4529_Arg4530insThrGlySerArgAlaGlySerAr... | |
| ENST00000527096.5:c.13552_13575dup | ENSP00000434583.1:p.Arg4525_Arg4526insThrGlySerArgAlaGlySerAr... | |
| NM_000445.4:c.13564_13587dup | NP_000436.2:p.Arg4529_Arg4530insThrGlySerArgAlaGlySerArg | |
| NM_201378.3:c.13441_13464dup | NP_958780.1:p.Arg4488_Arg4489insThrGlySerArgAlaGlySerArg | |
| NM_201379.2:c.13417_13440dup | NP_958781.1:p.Arg4480_Arg4481insThrGlySerArgAlaGlySerArg | |
| NM_201380.3:c.13894_13917dup | NP_958782.1:p.Arg4639_Arg4640insThrGlySerArgAlaGlySerArg | |
| NM_201381.2:c.13387_13410dup | NP_958783.1:p.Arg4470_Arg4471insThrGlySerArgAlaGlySerArg | |
| NM_201382.3:c.13483_13506dup | NP_958784.1:p.Arg4502_Arg4503insThrGlySerArgAlaGlySerArg | |
| NM_201383.2:c.13495_13518dup | NP_958785.1:p.Arg4506_Arg4507insThrGlySerArgAlaGlySerArg | |
| NM_201384.2:c.13483_13506dup | NP_958786.1:p.Arg4502_Arg4503insThrGlySerArgAlaGlySerArg | |
| XM_005250976.2:c.13909_13932dup | XP_005251033.1:p.Arg4644_Arg4645insThrGlySerArgAlaGlySerArg | |
| XM_005250978.2:c.13510_13533dup | XP_005251035.1:p.Arg4511_Arg4512insThrGlySerArgAlaGlySerArg | |
| XM_005250979.3:c.13498_13521dup | XP_005251036.1:p.Arg4507_Arg4508insThrGlySerArgAlaGlySerArg | |
| XM_005250980.3:c.13498_13521dup | XP_005251037.1:p.Arg4507_Arg4508insThrGlySerArgAlaGlySerArg | |
| XM_005250981.2:c.13456_13479dup | XP_005251038.1:p.Arg4493_Arg4494insThrGlySerArgAlaGlySerArg | |
| XM_005250982.2:c.13432_13455dup | XP_005251039.1:p.Arg4485_Arg4486insThrGlySerArgAlaGlySerArg | |
| XM_005250983.2:c.13414_13437dup | XP_005251040.1:p.Arg4479_Arg4480insThrGlySerArgAlaGlySerArg | |
| XM_005250984.3:c.13402_13425dup | XP_005251041.1:p.Arg4475_Arg4476insThrGlySerArgAlaGlySerArg | |
| XM_006716588.2:c.13579_13602dup | XP_006716651.1:p.Arg4534_Arg4535insThrGlySerArgAlaGlySerArg | |
| XM_006716589.2:c.13429_13452dup | XP_006716652.1:p.Arg4484_Arg4485insThrGlySerArgAlaGlySerArg | |
| XM_006716590.2:c.13429_13452dup | XP_006716653.1:p.Arg4484_Arg4485insThrGlySerArgAlaGlySerArg | |
| XM_011517130.1:c.13498_13521dup | XP_011515432.1:p.Arg4507_Arg4508insThrGlySerArgAlaGlySerArg | |
| XM_011517131.1:c.13414_13437dup | XP_011515433.1:p.Arg4479_Arg4480insThrGlySerArgAlaGlySerArg | |
| XM_011517132.1:c.10129_10152dup | XP_011515434.1:p.Arg3384_Arg3385insThrGlySerArgAlaGlySerArg | |
| XM_005250976.4:c.13909_13932dup | XP_005251033.1:p.Arg4644_Arg4645insThrGlySerArgAlaGlySerArg | |
| XM_005250978.3:c.13510_13533dup | XP_005251035.1:p.Arg4511_Arg4512insThrGlySerArgAlaGlySerArg | |
| XM_005250979.4:c.13498_13521dup | XP_005251036.1:p.Arg4507_Arg4508insThrGlySerArgAlaGlySerArg | |
| XM_005250980.4:c.13498_13521dup | XP_005251037.1:p.Arg4507_Arg4508insThrGlySerArgAlaGlySerArg | |
| XM_005250981.3:c.13456_13479dup | XP_005251038.1:p.Arg4493_Arg4494insThrGlySerArgAlaGlySerArg | |
| XM_005250982.4:c.13432_13455dup | XP_005251039.1:p.Arg4485_Arg4486insThrGlySerArgAlaGlySerArg | |
| XM_005250984.5:c.13402_13425dup | XP_005251041.1:p.Arg4475_Arg4476insThrGlySerArgAlaGlySerArg | |
| XM_006716588.3:c.13579_13602dup | XP_006716651.1:p.Arg4534_Arg4535insThrGlySerArgAlaGlySerArg | |
| XM_006716590.3:c.13429_13452dup | XP_006716653.1:p.Arg4484_Arg4485insThrGlySerArgAlaGlySerArg | |
| XM_011517130.2:c.13498_13521dup | XP_011515432.1:p.Arg4507_Arg4508insThrGlySerArgAlaGlySerArg | |
| XM_011517131.2:c.13414_13437dup | XP_011515433.1:p.Arg4479_Arg4480insThrGlySerArgAlaGlySerArg | |
| XM_011517132.2:c.10129_10152dup | XP_011515434.1:p.Arg3384_Arg3385insThrGlySerArgAlaGlySerArg | |
| NM_000445.5:c.13564_13587dup | NP_000436.2:p.Arg4529_Arg4530insThrGlySerArgAlaGlySerArg | |
| NM_201378.4:c.13441_13464dup MANE Plus Clinical | NP_958780.1:p.Arg4488_Arg4489insThrGlySerArgAlaGlySerArg | |
| NM_201379.3:c.13417_13440dup | NP_958781.1:p.Arg4480_Arg4481insThrGlySerArgAlaGlySerArg | |
| NM_201380.4:c.13894_13917dup | NP_958782.1:p.Arg4639_Arg4640insThrGlySerArgAlaGlySerArg | |
| NM_201381.3:c.13387_13410dup | NP_958783.1:p.Arg4470_Arg4471insThrGlySerArgAlaGlySerArg | |
| NM_201382.4:c.13483_13506dup | NP_958784.1:p.Arg4502_Arg4503insThrGlySerArgAlaGlySerArg | |
| NM_201383.3:c.13495_13518dup | NP_958785.1:p.Arg4506_Arg4507insThrGlySerArgAlaGlySerArg | |
| NM_201384.3:c.13483_13506dup MANE Select | NP_958786.1:p.Arg4502_Arg4503insThrGlySerArgAlaGlySerArg |