Linked Data
dbSNP Id:
rs1910919493
gnomAD v3:
16-88826369-A-ACAGGCAGGGAACAGGGGTGGGG
gnomAD v4:
16-88826369-A-ACAGGCAGGGAACAGGGGTGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88826371_88826392dup , CM000678.2:g.88826371_88826392dup | GRCh38 |
| NC_000016.9:g.88892779_88892800dup , CM000678.1:g.88892779_88892800dup | GRCh37 |
| NC_000016.8:g.87420280_87420301dup | NCBI36 |
| NG_008667.1:g.35576_35597dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.1139+311_1139+332dup MANE Select | ENSP00000268695.5:n.1139+311_1139+332dup | |
| ENST00000268695.9:c.1139+311_1139+332dup | ENSP00000268695.5:n.1139+311_1139+332dup | |
| ENST00000562593.5:n.4548+311_4548+332dup | ||
| ENST00000564263.1:n.415+311_415+332dup | ||
| ENST00000567525.5:c.820+311_820+332dup | ENSP00000454484.1:n.820+311_820+332dup | |
| ENST00000568613.5:c.1258+311_1258+332dup | ENSP00000457921.1:n.1258+311_1258+332dup | |
| NM_000512.4:c.1139+311_1139+332dup | NP_000503.1:n.1139+311_1139+332dup | |
| XM_005256301.2:c.1139+311_1139+332dup | XP_005256358.1:n.1139+311_1139+332dup | |
| XM_005256302.1:c.1157+311_1157+332dup | XP_005256359.1:n.1157+311_1157+332dup | |
| XM_011522982.1:c.1157+311_1157+332dup | XP_011521284.1:n.1157+311_1157+332dup | |
| XM_011522984.1:c.1157+311_1157+332dup | XP_011521286.1:n.1157+311_1157+332dup | |
| NM_001323543.1:c.584+311_584+332dup | NP_001310472.1:n.584+311_584+332dup | |
| NM_001323544.1:c.1157+311_1157+332dup | NP_001310473.1:n.1157+311_1157+332dup | |
| XM_005256301.3:c.1139+311_1139+332dup | XP_005256358.1:n.1139+311_1139+332dup | |
| XM_011522982.2:c.1157+311_1157+332dup | XP_011521284.1:n.1157+311_1157+332dup | |
| XM_017023111.2:c.1157+311_1157+332dup | XP_016878600.1:n.1157+311_1157+332dup | |
| XM_017023112.2:c.1157+311_1157+332dup | XP_016878601.1:n.1157+311_1157+332dup | |
| XM_017023113.1:c.584+311_584+332dup | XP_016878602.1:n.584+311_584+332dup | |
| NM_000512.5:c.1139+311_1139+332dup MANE Select | NP_000503.1:n.1139+311_1139+332dup | |
| NM_001323543.2:c.584+311_584+332dup | NP_001310472.1:n.584+311_584+332dup | |
| NM_001323544.2:c.1157+311_1157+332dup | NP_001310473.1:n.1157+311_1157+332dup |