Linked Data
dbSNP Id:
rs772041102
gnomAD v3:
6-7554125-A-ACACACACACACACACACAC
gnomAD v4:
6-7554125-A-ACACACACACACACACACAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7554126_7554127insACACACACACACACACACC , CM000668.2:g.7554126_7554127insACACACACACACACACACC | GRCh38 |
| NC_000006.11:g.7554359_7554360insACACACACACACACACACC , CM000668.1:g.7554359_7554360insACACACACACACACACACC | GRCh37 |
| NC_000006.10:g.7499358_7499359insACACACACACACACACACC | NCBI36 |
| NG_008803.1:g.17490_17491insACACACACACACACACACC , LRG_423:g.17490_17491insACACACACACACACACACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683682.2:c.171-1592_171-1591insACACACACACACACACACC | ENSP00000508162.2:n.171-1592_171-1591insACACACACACACACACACC | |
| ENST00000710359.1:c.171-1592_171-1591insACACACACACACACACACC | ENSP00000518230.1:n.171-1592_171-1591insACACACACACACACACACC | |
| ENST00000683563.1:n.63-1592_63-1591insACACACACACACACACACC | ||
| ENST00000683682.1:c.66-1592_66-1591insACACACACACACACACACC | ENSP00000508162.1:n.66-1592_66-1591insACACACACACACACACACC | |
| ENST00000379802.8:c.171-1592_171-1591insACACACACACACACACACC MANE Select | ENSP00000369129.3:n.171-1592_171-1591insACACACACACACACACACC | |
| ENST00000379802.7:c.171-1592_171-1591insACACACACACACACACACC | ENSP00000369129.3:n.171-1592_171-1591insACACACACACACACACACC | |
| ENST00000418664.2:c.171-1592_171-1591insACACACACACACACACACC | ENSP00000396591.2:n.171-1592_171-1591insACACACACACACACACACC | |
| NM_001008844.1:c.171-1592_171-1591insACACACACACACACACACC | NP_001008844.1:n.171-1592_171-1591insACACACACACACACACACC | |
| NM_004415.2:c.171-1592_171-1591insACACACACACACACACACC , LRG_423t1:c.171-1592_171-1591insACACACACACACACACACC | NP_004406.2:n.171-1592_171-1591insACACACACACACACACACC | |
| XM_011514323.1:c.171-1592_171-1591insACACACACACACACACACC | XP_011512625.1:n.171-1592_171-1591insACACACACACACACACACC | |
| NM_001008844.2:c.171-1592_171-1591insACACACACACACACACACC | NP_001008844.1:n.171-1592_171-1591insACACACACACACACACACC | |
| NM_001319034.1:c.171-1592_171-1591insACACACACACACACACACC | NP_001305963.1:n.171-1592_171-1591insACACACACACACACACACC | |
| NM_004415.3:c.171-1592_171-1591insACACACACACACACACACC | NP_004406.2:n.171-1592_171-1591insACACACACACACACACACC | |
| NM_004415.4:c.171-1592_171-1591insACACACACACACACACACC MANE Select | NP_004406.2:n.171-1592_171-1591insACACACACACACACACACC | |
| NM_001008844.3:c.171-1592_171-1591insACACACACACACACACACC | NP_001008844.1:n.171-1592_171-1591insACACACACACACACACACC | |
| NM_001319034.2:c.171-1592_171-1591insACACACACACACACACACC | NP_001305963.1:n.171-1592_171-1591insACACACACACACACACACC |