Linked Data
ClinVar Variation Id:
1050680
dbSNP Id:
rs782472576
gnomAD v2:
8-144990498-G-GGAGCCGGTGCGC
gnomAD v3:
8-143916330-G-GGAGCCGGTGCGC
gnomAD v4:
8-143916330-G-GGAGCCGGTGCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143916342_143916353dup , CM000670.2:g.143916342_143916353dup | GRCh38 |
| NC_000008.10:g.144990510_144990521dup , CM000670.1:g.144990510_144990521dup | GRCh37 |
| NC_000008.9:g.145062498_145062509dup | NCBI36 |
| NG_012492.1:g.65404_65415dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.13611_13622dup | ENSP00000437303.2:p.Ser4541_Arg4542insArgThrGlySer | |
| ENST00000685198.1:c.13530_13541dup | ENSP00000510528.1:p.Ser4514_Arg4515insArgThrGlySer | |
| ENST00000687971.1:c.13197_13208dup | ENSP00000510788.1:p.Ser4403_Arg4404insArgThrGlySer | |
| ENST00000693060.1:c.13410_13421dup | ENSP00000510329.1:p.Ser4474_Arg4475insArgThrGlySer | |
| ENST00000345136.8:c.13479_13490dup MANE Select | ENSP00000344848.3:p.Ser4497_Arg4498insArgThrGlySer | |
| ENST00000527303.2:c.10179_10190dup | ENSP00000433982.2:p.Ser3397_Arg3398insArgThrGlySer | |
| ENST00000322810.8:c.13890_13901dup | ENSP00000323856.4:p.Ser4634_Arg4635insArgThrGlySer | |
| ENST00000345136.7:c.13479_13490dup | ENSP00000344848.3:p.Ser4497_Arg4498insArgThrGlySer | |
| ENST00000354589.7:c.13479_13490dup | ENSP00000346602.3:p.Ser4497_Arg4498insArgThrGlySer | |
| ENST00000354958.6:c.13413_13424dup | ENSP00000347044.2:p.Ser4475_Arg4476insArgThrGlySer | |
| ENST00000356346.7:c.13437_13448dup MANE Plus Clinical | ENSP00000348702.3:p.Ser4483_Arg4484insArgThrGlySer | |
| ENST00000357649.6:c.13491_13502dup | ENSP00000350277.2:p.Ser4501_Arg4502insArgThrGlySer | |
| ENST00000398774.6:c.13383_13394dup | ENSP00000381756.2:p.Ser4465_Arg4466insArgThrGlySer | |
| ENST00000436759.6:c.13560_13571dup | ENSP00000388180.2:p.Ser4524_Arg4525insArgThrGlySer | |
| ENST00000527096.5:c.13548_13559dup | ENSP00000434583.1:p.Ser4520_Arg4521insArgThrGlySer | |
| NM_000445.4:c.13560_13571dup | NP_000436.2:p.Ser4524_Arg4525insArgThrGlySer | |
| NM_201378.3:c.13437_13448dup | NP_958780.1:p.Ser4483_Arg4484insArgThrGlySer | |
| NM_201379.2:c.13413_13424dup | NP_958781.1:p.Ser4475_Arg4476insArgThrGlySer | |
| NM_201380.3:c.13890_13901dup | NP_958782.1:p.Ser4634_Arg4635insArgThrGlySer | |
| NM_201381.2:c.13383_13394dup | NP_958783.1:p.Ser4465_Arg4466insArgThrGlySer | |
| NM_201382.3:c.13479_13490dup | NP_958784.1:p.Ser4497_Arg4498insArgThrGlySer | |
| NM_201383.2:c.13491_13502dup | NP_958785.1:p.Ser4501_Arg4502insArgThrGlySer | |
| NM_201384.2:c.13479_13490dup | NP_958786.1:p.Ser4497_Arg4498insArgThrGlySer | |
| XM_005250976.2:c.13905_13916dup | XP_005251033.1:p.Ser4639_Arg4640insArgThrGlySer | |
| XM_005250978.2:c.13506_13517dup | XP_005251035.1:p.Ser4506_Arg4507insArgThrGlySer | |
| XM_005250979.3:c.13494_13505dup | XP_005251036.1:p.Ser4502_Arg4503insArgThrGlySer | |
| XM_005250980.3:c.13494_13505dup | XP_005251037.1:p.Ser4502_Arg4503insArgThrGlySer | |
| XM_005250981.2:c.13452_13463dup | XP_005251038.1:p.Ser4488_Arg4489insArgThrGlySer | |
| XM_005250982.2:c.13428_13439dup | XP_005251039.1:p.Ser4480_Arg4481insArgThrGlySer | |
| XM_005250983.2:c.13410_13421dup | XP_005251040.1:p.Ser4474_Arg4475insArgThrGlySer | |
| XM_005250984.3:c.13398_13409dup | XP_005251041.1:p.Ser4470_Arg4471insArgThrGlySer | |
| XM_006716588.2:c.13575_13586dup | XP_006716651.1:p.Ser4529_Arg4530insArgThrGlySer | |
| XM_006716589.2:c.13425_13436dup | XP_006716652.1:p.Ser4479_Arg4480insArgThrGlySer | |
| XM_006716590.2:c.13425_13436dup | XP_006716653.1:p.Ser4479_Arg4480insArgThrGlySer | |
| XM_011517130.1:c.13494_13505dup | XP_011515432.1:p.Ser4502_Arg4503insArgThrGlySer | |
| XM_011517131.1:c.13410_13421dup | XP_011515433.1:p.Ser4474_Arg4475insArgThrGlySer | |
| XM_011517132.1:c.10125_10136dup | XP_011515434.1:p.Ser3379_Arg3380insArgThrGlySer | |
| XM_005250976.4:c.13905_13916dup | XP_005251033.1:p.Ser4639_Arg4640insArgThrGlySer | |
| XM_005250978.3:c.13506_13517dup | XP_005251035.1:p.Ser4506_Arg4507insArgThrGlySer | |
| XM_005250979.4:c.13494_13505dup | XP_005251036.1:p.Ser4502_Arg4503insArgThrGlySer | |
| XM_005250980.4:c.13494_13505dup | XP_005251037.1:p.Ser4502_Arg4503insArgThrGlySer | |
| XM_005250981.3:c.13452_13463dup | XP_005251038.1:p.Ser4488_Arg4489insArgThrGlySer | |
| XM_005250982.4:c.13428_13439dup | XP_005251039.1:p.Ser4480_Arg4481insArgThrGlySer | |
| XM_005250984.5:c.13398_13409dup | XP_005251041.1:p.Ser4470_Arg4471insArgThrGlySer | |
| XM_006716588.3:c.13575_13586dup | XP_006716651.1:p.Ser4529_Arg4530insArgThrGlySer | |
| XM_006716590.3:c.13425_13436dup | XP_006716653.1:p.Ser4479_Arg4480insArgThrGlySer | |
| XM_011517130.2:c.13494_13505dup | XP_011515432.1:p.Ser4502_Arg4503insArgThrGlySer | |
| XM_011517131.2:c.13410_13421dup | XP_011515433.1:p.Ser4474_Arg4475insArgThrGlySer | |
| XM_011517132.2:c.10125_10136dup | XP_011515434.1:p.Ser3379_Arg3380insArgThrGlySer | |
| NM_000445.5:c.13560_13571dup | NP_000436.2:p.Ser4524_Arg4525insArgThrGlySer | |
| NM_201378.4:c.13437_13448dup MANE Plus Clinical | NP_958780.1:p.Ser4483_Arg4484insArgThrGlySer | |
| NM_201379.3:c.13413_13424dup | NP_958781.1:p.Ser4475_Arg4476insArgThrGlySer | |
| NM_201380.4:c.13890_13901dup | NP_958782.1:p.Ser4634_Arg4635insArgThrGlySer | |
| NM_201381.3:c.13383_13394dup | NP_958783.1:p.Ser4465_Arg4466insArgThrGlySer | |
| NM_201382.4:c.13479_13490dup | NP_958784.1:p.Ser4497_Arg4498insArgThrGlySer | |
| NM_201383.3:c.13491_13502dup | NP_958785.1:p.Ser4501_Arg4502insArgThrGlySer | |
| NM_201384.3:c.13479_13490dup MANE Select | NP_958786.1:p.Ser4497_Arg4498insArgThrGlySer |