Linked Data
dbSNP Id:
rs782323828
ExAC:
8:144990528 A / AGCCG
gnomAD v2:
8-144990528-A-AGCCG
gnomAD v3:
8-143916360-A-AGCCG
gnomAD v4:
8-143916360-A-AGCCG
MyVariant Identifiers:
chr8:g.144990528_144990529insGCCG (hg19)
chr8:g.143916360_143916361insGCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143916362_143916363insCGGC , CM000670.2:g.143916362_143916363insCGGC | GRCh38 |
| NC_000008.10:g.144990530_144990531insCGGC , CM000670.1:g.144990530_144990531insCGGC | GRCh37 |
| NC_000008.9:g.145062518_145062519insCGGC | NCBI36 |
| NG_012492.1:g.65385_65386insCGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528025.6:c.13592_13593insCGGC | ENSP00000437303.2:p.Ser4533TrpfsTer20 | |
| ENST00000685198.1:c.13511_13512insCGGC | ENSP00000510528.1:p.Ser4506TrpfsTer20 | |
| ENST00000687971.1:c.13178_13179insCGGC | ENSP00000510788.1:p.Ser4395TrpfsTer20 | |
| ENST00000693060.1:c.13391_13392insCGGC | ENSP00000510329.1:p.Ser4466TrpfsTer20 | |
| ENST00000345136.8:c.13460_13461insCGGC MANE Select | ENSP00000344848.3:p.Ser4489TrpfsTer20 | |
| ENST00000527303.2:c.10160_10161insCGGC | ENSP00000433982.2:p.Ser3389TrpfsTer20 | |
| ENST00000322810.8:c.13871_13872insCGGC | ENSP00000323856.4:p.Ser4626TrpfsTer20 | |
| ENST00000345136.7:c.13460_13461insCGGC | ENSP00000344848.3:p.Ser4489TrpfsTer20 | |
| ENST00000354589.7:c.13460_13461insCGGC | ENSP00000346602.3:p.Ser4489TrpfsTer20 | |
| ENST00000354958.6:c.13394_13395insCGGC | ENSP00000347044.2:p.Ser4467TrpfsTer20 | |
| ENST00000356346.7:c.13418_13419insCGGC MANE Plus Clinical | ENSP00000348702.3:p.Ser4475TrpfsTer20 | |
| ENST00000357649.6:c.13472_13473insCGGC | ENSP00000350277.2:p.Ser4493TrpfsTer20 | |
| ENST00000398774.6:c.13364_13365insCGGC | ENSP00000381756.2:p.Ser4457TrpfsTer20 | |
| ENST00000436759.6:c.13541_13542insCGGC | ENSP00000388180.2:p.Ser4516TrpfsTer20 | |
| ENST00000527096.5:c.13529_13530insCGGC | ENSP00000434583.1:p.Ser4512TrpfsTer20 | |
| NM_000445.4:c.13541_13542insCGGC | NP_000436.2:p.Ser4516TrpfsTer20 | |
| NM_201378.3:c.13418_13419insCGGC | NP_958780.1:p.Ser4475TrpfsTer20 | |
| NM_201379.2:c.13394_13395insCGGC | NP_958781.1:p.Ser4467TrpfsTer20 | |
| NM_201380.3:c.13871_13872insCGGC | NP_958782.1:p.Ser4626TrpfsTer20 | |
| NM_201381.2:c.13364_13365insCGGC | NP_958783.1:p.Ser4457TrpfsTer20 | |
| NM_201382.3:c.13460_13461insCGGC | NP_958784.1:p.Ser4489TrpfsTer20 | |
| NM_201383.2:c.13472_13473insCGGC | NP_958785.1:p.Ser4493TrpfsTer20 | |
| NM_201384.2:c.13460_13461insCGGC | NP_958786.1:p.Ser4489TrpfsTer20 | |
| XM_005250976.2:c.13886_13887insCGGC | XP_005251033.1:p.Ser4631TrpfsTer20 | |
| XM_005250978.2:c.13487_13488insCGGC | XP_005251035.1:p.Ser4498TrpfsTer20 | |
| XM_005250979.3:c.13475_13476insCGGC | XP_005251036.1:p.Ser4494TrpfsTer20 | |
| XM_005250980.3:c.13475_13476insCGGC | XP_005251037.1:p.Ser4494TrpfsTer20 | |
| XM_005250981.2:c.13433_13434insCGGC | XP_005251038.1:p.Ser4480TrpfsTer20 | |
| XM_005250982.2:c.13409_13410insCGGC | XP_005251039.1:p.Ser4472TrpfsTer20 | |
| XM_005250983.2:c.13391_13392insCGGC | XP_005251040.1:p.Ser4466TrpfsTer20 | |
| XM_005250984.3:c.13379_13380insCGGC | XP_005251041.1:p.Ser4462TrpfsTer20 | |
| XM_006716588.2:c.13556_13557insCGGC | XP_006716651.1:p.Ser4521TrpfsTer20 | |
| XM_006716589.2:c.13406_13407insCGGC | XP_006716652.1:p.Ser4471TrpfsTer20 | |
| XM_006716590.2:c.13406_13407insCGGC | XP_006716653.1:p.Ser4471TrpfsTer20 | |
| XM_011517130.1:c.13475_13476insCGGC | XP_011515432.1:p.Ser4494TrpfsTer20 | |
| XM_011517131.1:c.13391_13392insCGGC | XP_011515433.1:p.Ser4466TrpfsTer20 | |
| XM_011517132.1:c.10106_10107insCGGC | XP_011515434.1:p.Ser3371TrpfsTer20 | |
| XM_005250976.4:c.13886_13887insCGGC | XP_005251033.1:p.Ser4631TrpfsTer20 | |
| XM_005250978.3:c.13487_13488insCGGC | XP_005251035.1:p.Ser4498TrpfsTer20 | |
| XM_005250979.4:c.13475_13476insCGGC | XP_005251036.1:p.Ser4494TrpfsTer20 | |
| XM_005250980.4:c.13475_13476insCGGC | XP_005251037.1:p.Ser4494TrpfsTer20 | |
| XM_005250981.3:c.13433_13434insCGGC | XP_005251038.1:p.Ser4480TrpfsTer20 | |
| XM_005250982.4:c.13409_13410insCGGC | XP_005251039.1:p.Ser4472TrpfsTer20 | |
| XM_005250984.5:c.13379_13380insCGGC | XP_005251041.1:p.Ser4462TrpfsTer20 | |
| XM_006716588.3:c.13556_13557insCGGC | XP_006716651.1:p.Ser4521TrpfsTer20 | |
| XM_006716590.3:c.13406_13407insCGGC | XP_006716653.1:p.Ser4471TrpfsTer20 | |
| XM_011517130.2:c.13475_13476insCGGC | XP_011515432.1:p.Ser4494TrpfsTer20 | |
| XM_011517131.2:c.13391_13392insCGGC | XP_011515433.1:p.Ser4466TrpfsTer20 | |
| XM_011517132.2:c.10106_10107insCGGC | XP_011515434.1:p.Ser3371TrpfsTer20 | |
| NM_000445.5:c.13541_13542insCGGC | NP_000436.2:p.Ser4516TrpfsTer20 | |
| NM_201378.4:c.13418_13419insCGGC MANE Plus Clinical | NP_958780.1:p.Ser4475TrpfsTer20 | |
| NM_201379.3:c.13394_13395insCGGC | NP_958781.1:p.Ser4467TrpfsTer20 | |
| NM_201380.4:c.13871_13872insCGGC | NP_958782.1:p.Ser4626TrpfsTer20 | |
| NM_201381.3:c.13364_13365insCGGC | NP_958783.1:p.Ser4457TrpfsTer20 | |
| NM_201382.4:c.13460_13461insCGGC | NP_958784.1:p.Ser4489TrpfsTer20 | |
| NM_201383.3:c.13472_13473insCGGC | NP_958785.1:p.Ser4493TrpfsTer20 | |
| NM_201384.3:c.13460_13461insCGGC MANE Select | NP_958786.1:p.Ser4489TrpfsTer20 |