Linked Data
dbSNP Id:
rs769073173
ExAC:
7:30492443 G / GCA
gnomAD v2:
7-30492443-G-GCA
gnomAD v3:
7-30452827-G-GCA
gnomAD v4:
7-30452827-G-GCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30452827_30452828insCA , CM000669.2:g.30452827_30452828insCA | GRCh38 |
| NC_000007.13:g.30492443_30492444insCA , CM000669.1:g.30492443_30492444insCA | GRCh37 |
| NC_000007.12:g.30458968_30458969insCA | NCBI36 |
| NG_013025.1:g.30950_30951insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222823.9:c.589_590insTG MANE Select | ENSP00000222823.4:p.Thr197MetfsTer29 | |
| ENST00000222823.8:c.589_590insTG | ENSP00000222823.4:p.Thr197MetfsTer29 | |
| ENST00000434755.5:c.589_590insTG | ENSP00000416946.1:p.Thr197MetfsTer29 | |
| NM_006092.2:c.589_590insTG | NP_006083.1:p.Thr197MetfsTer29 | |
| XM_005249568.1:c.589_590insTG | XP_005249625.1:p.Thr197MetfsTer29 | |
| XM_005249572.1:c.589_590insTG | XP_005249629.1:p.Thr197MetfsTer29 | |
| XM_005249576.1:c.9+6_9+7insTG | XP_005249633.1:n.9+6_9+7insTG | |
| XM_006715633.2:c.589_590insTG | XP_006715696.1:p.Thr197MetfsTer29 | |
| XM_011515079.1:c.589_590insTG | XP_011513381.1:p.Thr197MetfsTer29 | |
| XM_011515080.1:c.589_590insTG | XP_011513382.1:p.Thr197MetfsTer29 | |
| XM_011515081.1:c.589_590insTG | XP_011513383.1:p.Thr197MetfsTer29 | |
| XM_011515082.1:c.589_590insTG | XP_011513384.1:p.Thr197MetfsTer29 | |
| XM_011515083.1:c.589_590insTG | XP_011513385.1:p.Thr197MetfsTer29 | |
| XM_011515084.1:c.589_590insTG | XP_011513386.1:p.Thr197MetfsTer29 | |
| XM_011515085.1:c.589_590insTG | XP_011513387.1:p.Thr197MetfsTer29 | |
| XM_011515086.1:c.589_590insTG | XP_011513388.1:p.Thr197MetfsTer29 | |
| XM_011515087.1:c.589_590insTG | XP_011513389.1:p.Thr197MetfsTer29 | |
| XM_011515088.1:c.589_590insTG | XP_011513390.1:p.Thr197MetfsTer29 | |
| XR_926907.1:n.1167_1168insTG | ||
| XR_926908.1:n.1167_1168insTG | ||
| XR_926909.1:n.1167_1168insTG | ||
| XR_926910.1:n.1167_1168insTG | ||
| NM_001354849.1:c.589_590insTG | NP_001341778.1:p.Thr197MetfsTer29 | |
| NM_006092.3:c.589_590insTG | NP_006083.1:p.Thr197MetfsTer29 | |
| NR_149002.1:n.1201_1202insTG | ||
| XM_011515080.2:c.589_590insTG | XP_011513382.1:p.Thr197MetfsTer29 | |
| XM_011515081.2:c.589_590insTG | XP_011513383.1:p.Thr197MetfsTer29 | |
| XM_011515088.2:c.589_590insTG | XP_011513390.1:p.Thr197MetfsTer29 | |
| XM_017011674.1:c.589_590insTG | XP_016867163.1:p.Thr197MetfsTer29 | |
| XR_001744529.1:n.1167_1168insTG | ||
| XR_001744530.1:n.1167_1168insTG | ||
| XR_002956406.1:n.1115_1116insTG | ||
| XR_926908.2:n.1167_1168insTG | ||
| XR_926909.2:n.1167_1168insTG | ||
| NM_006092.4:c.589_590insTG MANE Select | NP_006083.1:p.Thr197MetfsTer29 | |
| NM_001354849.2:c.589_590insTG | NP_001341778.1:p.Thr197MetfsTer29 | |
| NR_149002.2:n.1119_1120insTG |