Linked Data
dbSNP Id:
rs61605193
gnomAD v2:
6-7554359-C-CACACACACACACACACACA
gnomAD v3:
6-7554126-C-CACACACACACACACACACA
gnomAD v4:
6-7554126-C-CACACACACACACACACACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7554126_7554127insACACACACACACACACACA , CM000668.2:g.7554126_7554127insACACACACACACACACACA | GRCh38 |
| NC_000006.11:g.7554359_7554360insACACACACACACACACACA , CM000668.1:g.7554359_7554360insACACACACACACACACACA | GRCh37 |
| NC_000006.10:g.7499358_7499359insACACACACACACACACACA | NCBI36 |
| NG_008803.1:g.17490_17491insACACACACACACACACACA , LRG_423:g.17490_17491insACACACACACACACACACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683682.2:c.171-1592_171-1591insACACACACACACACACACA | ENSP00000508162.2:n.171-1592_171-1591insACACACACACACACACACA | |
| ENST00000710359.1:c.171-1592_171-1591insACACACACACACACACACA | ENSP00000518230.1:n.171-1592_171-1591insACACACACACACACACACA | |
| ENST00000683563.1:n.63-1592_63-1591insACACACACACACACACACA | ||
| ENST00000683682.1:c.66-1592_66-1591insACACACACACACACACACA | ENSP00000508162.1:n.66-1592_66-1591insACACACACACACACACACA | |
| ENST00000379802.8:c.171-1592_171-1591insACACACACACACACACACA MANE Select | ENSP00000369129.3:n.171-1592_171-1591insACACACACACACACACACA | |
| ENST00000379802.7:c.171-1592_171-1591insACACACACACACACACACA | ENSP00000369129.3:n.171-1592_171-1591insACACACACACACACACACA | |
| ENST00000418664.2:c.171-1592_171-1591insACACACACACACACACACA | ENSP00000396591.2:n.171-1592_171-1591insACACACACACACACACACA | |
| NM_001008844.1:c.171-1592_171-1591insACACACACACACACACACA | NP_001008844.1:n.171-1592_171-1591insACACACACACACACACACA | |
| NM_004415.2:c.171-1592_171-1591insACACACACACACACACACA , LRG_423t1:c.171-1592_171-1591insACACACACACACACACACA | NP_004406.2:n.171-1592_171-1591insACACACACACACACACACA | |
| XM_011514323.1:c.171-1592_171-1591insACACACACACACACACACA | XP_011512625.1:n.171-1592_171-1591insACACACACACACACACACA | |
| NM_001008844.2:c.171-1592_171-1591insACACACACACACACACACA | NP_001008844.1:n.171-1592_171-1591insACACACACACACACACACA | |
| NM_001319034.1:c.171-1592_171-1591insACACACACACACACACACA | NP_001305963.1:n.171-1592_171-1591insACACACACACACACACACA | |
| NM_004415.3:c.171-1592_171-1591insACACACACACACACACACA | NP_004406.2:n.171-1592_171-1591insACACACACACACACACACA | |
| NM_004415.4:c.171-1592_171-1591insACACACACACACACACACA MANE Select | NP_004406.2:n.171-1592_171-1591insACACACACACACACACACA | |
| NM_001008844.3:c.171-1592_171-1591insACACACACACACACACACA | NP_001008844.1:n.171-1592_171-1591insACACACACACACACACACA | |
| NM_001319034.2:c.171-1592_171-1591insACACACACACACACACACA | NP_001305963.1:n.171-1592_171-1591insACACACACACACACACACA |