Linked Data
dbSNP Id:
rs2127825581
gnomAD v3:
6-88143797-C-CTGGCTCAAAA
gnomAD v4:
6-88143797-C-CTGGCTCAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.88143798_88143799insGGCTCAAAAT , CM000668.2:g.88143798_88143799insGGCTCAAAAT | GRCh38 |
| NC_000006.11:g.88853517_88853518insGGCTCAAAAT , CM000668.1:g.88853517_88853518insGGCTCAAAAT | GRCh37 |
| NC_000006.10:g.88910236_88910237insGGCTCAAAAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362094.6:c.1310_1311insTTTTGAGCCA | ENSP00000355418.5:n.1310_1311insTTTTGAGCCA | |
| ENST00000369499.3:c.*58_*59insTTTTGAGCCA | ENSP00000358511.2:n.*58_*59insTTTTGAGCCA | |
| ENST00000369501.3:c.*58_*59insTTTTGAGCCA MANE Select | ENSP00000358513.2:n.*58_*59insTTTTGAGCCA | |
| ENST00000428600.3:c.*58_*59insTTTTGAGCCA | ENSP00000412192.2:n.*58_*59insTTTTGAGCCA | |
| ENST00000468898.2:c.1378_1379insTTTTGAGCCA | ENSP00000420188.1:n.1378_1379insTTTTGAGCCA | |
| ENST00000549890.2:c.*58_*59insTTTTGAGCCA | ENSP00000446819.1:n.*58_*59insTTTTGAGCCA | |
| ENST00000551417.2:c.*58_*59insTTTTGAGCCA | ENSP00000446702.2:n.*58_*59insTTTTGAGCCA | |
| ENST00000369499.2:c.*58_*59insTTTTGAGCCA | ENSP00000358511.2:n.*58_*59insTTTTGAGCCA | |
| ENST00000369501.2:c.*58_*59insTTTTGAGCCA | ENSP00000358513.2:n.*58_*59insTTTTGAGCCA | |
| ENST00000549890.1:c.*58_*59insTTTTGAGCCA | ENSP00000446819.1:n.*58_*59insTTTTGAGCCA | |
| NM_001160226.1:c.*58_*59insTTTTGAGCCA | NP_001153698.1:n.*58_*59insTTTTGAGCCA | |
| NM_001160258.1:c.*58_*59insTTTTGAGCCA | NP_001153730.1:n.*58_*59insTTTTGAGCCA | |
| NM_001160259.1:c.*58_*59insTTTTGAGCCA | NP_001153731.1:n.*58_*59insTTTTGAGCCA | |
| NM_016083.4:c.*58_*59insTTTTGAGCCA | NP_057167.2:n.*58_*59insTTTTGAGCCA | |
| NM_033181.3:c.*58_*59insTTTTGAGCCA | NP_149421.2:n.*58_*59insTTTTGAGCCA | |
| XM_005248650.3:c.*58_*59insTTTTGAGCCA | XP_005248707.1:n.*58_*59insTTTTGAGCCA | |
| XM_006715330.2:c.*58_*59insTTTTGAGCCA | XP_006715393.1:n.*58_*59insTTTTGAGCCA | |
| XM_011535424.1:c.*58_*59insTTTTGAGCCA | XP_011533726.1:n.*58_*59insTTTTGAGCCA | |
| XM_011535425.1:c.*58_*59insTTTTGAGCCA | XP_011533727.1:n.*58_*59insTTTTGAGCCA | |
| XM_011535426.1:c.*58_*59insTTTTGAGCCA | XP_011533728.1:n.*58_*59insTTTTGAGCCA | |
| XM_011535427.1:c.*58_*59insTTTTGAGCCA | XP_011533729.1:n.*58_*59insTTTTGAGCCA | |
| XM_011535428.1:c.*58_*59insTTTTGAGCCA | XP_011533730.1:n.*58_*59insTTTTGAGCCA | |
| NM_001160226.2:c.*58_*59insTTTTGAGCCA | NP_001153698.1:n.*58_*59insTTTTGAGCCA | |
| NM_001160258.2:c.*58_*59insTTTTGAGCCA | NP_001153730.1:n.*58_*59insTTTTGAGCCA | |
| NM_001160259.2:c.*58_*59insTTTTGAGCCA | NP_001153731.1:n.*58_*59insTTTTGAGCCA | |
| NM_001365869.1:c.*58_*59insTTTTGAGCCA | NP_001352798.1:n.*58_*59insTTTTGAGCCA | |
| NM_001365870.1:c.*58_*59insTTTTGAGCCA | NP_001352799.1:n.*58_*59insTTTTGAGCCA | |
| NM_001365872.1:c.*58_*59insTTTTGAGCCA | NP_001352801.1:n.*58_*59insTTTTGAGCCA | |
| NM_001365874.1:c.*58_*59insTTTTGAGCCA | NP_001352803.1:n.*58_*59insTTTTGAGCCA | |
| NM_016083.5:c.*58_*59insTTTTGAGCCA | NP_057167.2:n.*58_*59insTTTTGAGCCA | |
| NM_033181.4:c.*58_*59insTTTTGAGCCA | NP_149421.2:n.*58_*59insTTTTGAGCCA | |
| XM_006715330.3:c.*58_*59insTTTTGAGCCA | XP_006715393.1:n.*58_*59insTTTTGAGCCA | |
| XM_011535425.2:c.*58_*59insTTTTGAGCCA | XP_011533727.1:n.*58_*59insTTTTGAGCCA | |
| XM_017010240.2:c.*58_*59insTTTTGAGCCA | XP_016865729.1:n.*58_*59insTTTTGAGCCA | |
| NM_001160226.3:c.*58_*59insTTTTGAGCCA | NP_001153698.1:n.*58_*59insTTTTGAGCCA | |
| NM_001160258.3:c.*58_*59insTTTTGAGCCA | NP_001153730.1:n.*58_*59insTTTTGAGCCA | |
| NM_001160259.3:c.*58_*59insTTTTGAGCCA | NP_001153731.1:n.*58_*59insTTTTGAGCCA | |
| NM_001365869.2:c.*58_*59insTTTTGAGCCA | NP_001352798.1:n.*58_*59insTTTTGAGCCA | |
| NM_001365870.2:c.*58_*59insTTTTGAGCCA | NP_001352799.1:n.*58_*59insTTTTGAGCCA | |
| NM_001365872.2:c.*58_*59insTTTTGAGCCA | NP_001352801.1:n.*58_*59insTTTTGAGCCA | |
| NM_001365874.2:c.*58_*59insTTTTGAGCCA | NP_001352803.1:n.*58_*59insTTTTGAGCCA | |
| NM_001370545.1:c.*58_*59insTTTTGAGCCA | NP_001357474.1:n.*58_*59insTTTTGAGCCA | |
| NM_001370546.1:c.*58_*59insTTTTGAGCCA | NP_001357475.1:n.*58_*59insTTTTGAGCCA | |
| NM_001370547.1:c.*58_*59insTTTTGAGCCA | NP_001357476.1:n.*58_*59insTTTTGAGCCA | |
| NM_016083.6:c.*58_*59insTTTTGAGCCA MANE Select | NP_057167.2:n.*58_*59insTTTTGAGCCA | |
| NM_001365874.3:c.*58_*59insTTTTGAGCCA | NP_001352803.1:n.*58_*59insTTTTGAGCCA |