Linked Data
dbSNP Id:
rs1847966694
gnomAD v3:
11-6392351-A-ATTTTATTTT
gnomAD v4:
11-6392351-A-ATTTTATTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6392351_6392352insTTTTATTTT , CM000673.2:g.6392351_6392352insTTTTATTTT | GRCh38 |
| NC_000011.9:g.6413581_6413582insTTTTATTTT , CM000673.1:g.6413581_6413582insTTTTATTTT | GRCh37 |
| NC_000011.8:g.6370157_6370158insTTTTATTTT | NCBI36 |
| NG_011780.1:g.6927_6928insTTTTATTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1091+195_1091+196insTTTTATTTT MANE Select | ENSP00000340409.4:n.1091+195_1091+196insTTTTATTTT | |
| ENST00000342245.8:c.1091+195_1091+196insTTTTATTTT | ENSP00000340409.4:n.1091+195_1091+196insTTTTATTTT | |
| ENST00000526280.1:c.320+155_320+156insTTTTATTTT | ||
| ENST00000527275.5:c.1088+195_1088+196insTTTTATTTT | ENSP00000435350.1:n.1088+195_1088+196insTTTTATTTT | |
| ENST00000531303.5:c.438+848_438+849insTTTTATTTT | ENSP00000432625.1:n.438+848_438+849insTTTTATTTT | |
| ENST00000533123.5:c.1091+195_1091+196insTTTTATTTT | ENSP00000435950.1:n.1091+195_1091+196insTTTTATTTT | |
| ENST00000534405.5:c.1131+155_1131+156insTTTTATTTT | ENSP00000434353.1:n.1131+155_1131+156insTTTTATTTT | |
| NM_000543.4:c.1091+195_1091+196insTTTTATTTT | NP_000534.3:n.1091+195_1091+196insTTTTATTTT | |
| NM_001007593.2:c.1088+195_1088+196insTTTTATTTT | NP_001007594.2:n.1088+195_1088+196insTTTTATTTT | |
| XM_005253075.3:c.1091+195_1091+196insTTTTATTTT | XP_005253132.1:n.1091+195_1091+196insTTTTATTTT | |
| XM_011520303.1:c.1131+155_1131+156insTTTTATTTT | XP_011518605.1:n.1131+155_1131+156insTTTTATTTT | |
| XM_011520304.1:c.1131+155_1131+156insTTTTATTTT | XP_011518606.1:n.1131+155_1131+156insTTTTATTTT | |
| XR_930886.1:n.1429+155_1429+156insTTTTATTTT | ||
| NM_001318087.1:c.1091+195_1091+196insTTTTATTTT | NP_001305016.1:n.1091+195_1091+196insTTTTATTTT | |
| NM_001318088.1:c.170+155_170+156insTTTTATTTT | NP_001305017.1:n.170+155_170+156insTTTTATTTT | |
| NM_001365135.1:c.1131+155_1131+156insTTTTATTTT | NP_001352064.1:n.1131+155_1131+156insTTTTATTTT | |
| NR_027400.2:n.1276+195_1276+196insTTTTATTTT | ||
| NR_134502.1:n.623+848_623+849insTTTTATTTT | ||
| XM_011520304.2:c.1131+155_1131+156insTTTTATTTT | XP_011518606.1:n.1131+155_1131+156insTTTTATTTT | |
| XR_001747940.2:n.1256+155_1256+156insTTTTATTTT | ||
| XR_002957158.1:n.1256+155_1256+156insTTTTATTTT | ||
| NM_000543.5:c.1091+195_1091+196insTTTTATTTT MANE Select | NP_000534.3:n.1091+195_1091+196insTTTTATTTT | |
| NM_001007593.3:c.1088+195_1088+196insTTTTATTTT | NP_001007594.2:n.1088+195_1088+196insTTTTATTTT | |
| NM_001318087.2:c.1091+195_1091+196insTTTTATTTT | NP_001305016.1:n.1091+195_1091+196insTTTTATTTT | |
| NM_001318088.2:c.170+155_170+156insTTTTATTTT | NP_001305017.1:n.170+155_170+156insTTTTATTTT | |
| NM_001365135.2:c.1131+155_1131+156insTTTTATTTT | NP_001352064.1:n.1131+155_1131+156insTTTTATTTT | |
| NR_027400.3:n.1216+195_1216+196insTTTTATTTT | ||
| NR_134502.2:n.563+848_563+849insTTTTATTTT |