Linked Data
dbSNP Id:
rs782181247
gnomAD v3:
8-143916359-C-CGGTGCGGG
gnomAD v4:
8-143916359-C-CGGTGCGGG
MyVariant Identifiers:
chr8:g.144990527_144990528insGGTGCGGG (hg19)
chr8:g.143916359_143916360insGGTGCGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143916359_143916360insGGTGCGGG , CM000670.2:g.143916359_143916360insGGTGCGGG | GRCh38 |
| NC_000008.10:g.144990527_144990528insGGTGCGGG , CM000670.1:g.144990527_144990528insGGTGCGGG | GRCh37 |
| NC_000008.9:g.145062515_145062516insGGTGCGGG | NCBI36 |
| NG_012492.1:g.65386_65387insCCCGCACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.13593_13594insCCCGCACC | ENSP00000437303.2:p.Gly4532ProfsTer31 | |
| ENST00000685198.1:c.13512_13513insCCCGCACC | ENSP00000510528.1:p.Gly4505ProfsTer31 | |
| ENST00000687971.1:c.13179_13180insCCCGCACC | ENSP00000510788.1:p.Gly4394ProfsTer31 | |
| ENST00000693060.1:c.13392_13393insCCCGCACC | ENSP00000510329.1:p.Gly4465ProfsTer31 | |
| ENST00000345136.8:c.13461_13462insCCCGCACC MANE Select | ENSP00000344848.3:p.Gly4488ProfsTer31 | |
| ENST00000527303.2:c.10161_10162insCCCGCACC | ENSP00000433982.2:p.Gly3388ProfsTer31 | |
| ENST00000322810.8:c.13872_13873insCCCGCACC | ENSP00000323856.4:p.Gly4625ProfsTer31 | |
| ENST00000345136.7:c.13461_13462insCCCGCACC | ENSP00000344848.3:p.Gly4488ProfsTer31 | |
| ENST00000354589.7:c.13461_13462insCCCGCACC | ENSP00000346602.3:p.Gly4488ProfsTer31 | |
| ENST00000354958.6:c.13395_13396insCCCGCACC | ENSP00000347044.2:p.Gly4466ProfsTer31 | |
| ENST00000356346.7:c.13419_13420insCCCGCACC MANE Plus Clinical | ENSP00000348702.3:p.Gly4474ProfsTer31 | |
| ENST00000357649.6:c.13473_13474insCCCGCACC | ENSP00000350277.2:p.Gly4492ProfsTer31 | |
| ENST00000398774.6:c.13365_13366insCCCGCACC | ENSP00000381756.2:p.Gly4456ProfsTer31 | |
| ENST00000436759.6:c.13542_13543insCCCGCACC | ENSP00000388180.2:p.Gly4515ProfsTer31 | |
| ENST00000527096.5:c.13530_13531insCCCGCACC | ENSP00000434583.1:p.Gly4511ProfsTer31 | |
| NM_000445.4:c.13542_13543insCCCGCACC | NP_000436.2:p.Gly4515ProfsTer31 | |
| NM_201378.3:c.13419_13420insCCCGCACC | NP_958780.1:p.Gly4474ProfsTer31 | |
| NM_201379.2:c.13395_13396insCCCGCACC | NP_958781.1:p.Gly4466ProfsTer31 | |
| NM_201380.3:c.13872_13873insCCCGCACC | NP_958782.1:p.Gly4625ProfsTer31 | |
| NM_201381.2:c.13365_13366insCCCGCACC | NP_958783.1:p.Gly4456ProfsTer31 | |
| NM_201382.3:c.13461_13462insCCCGCACC | NP_958784.1:p.Gly4488ProfsTer31 | |
| NM_201383.2:c.13473_13474insCCCGCACC | NP_958785.1:p.Gly4492ProfsTer31 | |
| NM_201384.2:c.13461_13462insCCCGCACC | NP_958786.1:p.Gly4488ProfsTer31 | |
| XM_005250976.2:c.13887_13888insCCCGCACC | XP_005251033.1:p.Gly4630ProfsTer31 | |
| XM_005250978.2:c.13488_13489insCCCGCACC | XP_005251035.1:p.Gly4497ProfsTer31 | |
| XM_005250979.3:c.13476_13477insCCCGCACC | XP_005251036.1:p.Gly4493ProfsTer31 | |
| XM_005250980.3:c.13476_13477insCCCGCACC | XP_005251037.1:p.Gly4493ProfsTer31 | |
| XM_005250981.2:c.13434_13435insCCCGCACC | XP_005251038.1:p.Gly4479ProfsTer31 | |
| XM_005250982.2:c.13410_13411insCCCGCACC | XP_005251039.1:p.Gly4471ProfsTer31 | |
| XM_005250983.2:c.13392_13393insCCCGCACC | XP_005251040.1:p.Gly4465ProfsTer31 | |
| XM_005250984.3:c.13380_13381insCCCGCACC | XP_005251041.1:p.Gly4461ProfsTer31 | |
| XM_006716588.2:c.13557_13558insCCCGCACC | XP_006716651.1:p.Gly4520ProfsTer31 | |
| XM_006716589.2:c.13407_13408insCCCGCACC | XP_006716652.1:p.Gly4470ProfsTer31 | |
| XM_006716590.2:c.13407_13408insCCCGCACC | XP_006716653.1:p.Gly4470ProfsTer31 | |
| XM_011517130.1:c.13476_13477insCCCGCACC | XP_011515432.1:p.Gly4493ProfsTer31 | |
| XM_011517131.1:c.13392_13393insCCCGCACC | XP_011515433.1:p.Gly4465ProfsTer31 | |
| XM_011517132.1:c.10107_10108insCCCGCACC | XP_011515434.1:p.Gly3370ProfsTer31 | |
| XM_005250976.4:c.13887_13888insCCCGCACC | XP_005251033.1:p.Gly4630ProfsTer31 | |
| XM_005250978.3:c.13488_13489insCCCGCACC | XP_005251035.1:p.Gly4497ProfsTer31 | |
| XM_005250979.4:c.13476_13477insCCCGCACC | XP_005251036.1:p.Gly4493ProfsTer31 | |
| XM_005250980.4:c.13476_13477insCCCGCACC | XP_005251037.1:p.Gly4493ProfsTer31 | |
| XM_005250981.3:c.13434_13435insCCCGCACC | XP_005251038.1:p.Gly4479ProfsTer31 | |
| XM_005250982.4:c.13410_13411insCCCGCACC | XP_005251039.1:p.Gly4471ProfsTer31 | |
| XM_005250984.5:c.13380_13381insCCCGCACC | XP_005251041.1:p.Gly4461ProfsTer31 | |
| XM_006716588.3:c.13557_13558insCCCGCACC | XP_006716651.1:p.Gly4520ProfsTer31 | |
| XM_006716590.3:c.13407_13408insCCCGCACC | XP_006716653.1:p.Gly4470ProfsTer31 | |
| XM_011517130.2:c.13476_13477insCCCGCACC | XP_011515432.1:p.Gly4493ProfsTer31 | |
| XM_011517131.2:c.13392_13393insCCCGCACC | XP_011515433.1:p.Gly4465ProfsTer31 | |
| XM_011517132.2:c.10107_10108insCCCGCACC | XP_011515434.1:p.Gly3370ProfsTer31 | |
| NM_000445.5:c.13542_13543insCCCGCACC | NP_000436.2:p.Gly4515ProfsTer31 | |
| NM_201378.4:c.13419_13420insCCCGCACC MANE Plus Clinical | NP_958780.1:p.Gly4474ProfsTer31 | |
| NM_201379.3:c.13395_13396insCCCGCACC | NP_958781.1:p.Gly4466ProfsTer31 | |
| NM_201380.4:c.13872_13873insCCCGCACC | NP_958782.1:p.Gly4625ProfsTer31 | |
| NM_201381.3:c.13365_13366insCCCGCACC | NP_958783.1:p.Gly4456ProfsTer31 | |
| NM_201382.4:c.13461_13462insCCCGCACC | NP_958784.1:p.Gly4488ProfsTer31 | |
| NM_201383.3:c.13473_13474insCCCGCACC | NP_958785.1:p.Gly4492ProfsTer31 | |
| NM_201384.3:c.13461_13462insCCCGCACC MANE Select | NP_958786.1:p.Gly4488ProfsTer31 |