Linked Data
gnomAD v3:
11-6392357-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
11-6392357-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6392362_6392363insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.2:g.6392362_6392363insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000011.9:g.6413592_6413593insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000673.1:g.6413592_6413593insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000011.8:g.6370168_6370169insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_011780.1:g.6938_6939insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000340409.4:n.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000342245.8:c.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000340409.4:n.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000526280.1:c.320+166_320+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000527275.5:c.1088+206_1088+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000435350.1:n.1088+206_1088+207insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000531303.5:c.439-854_439-853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000432625.1:n.439-854_439-853insTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000533123.5:c.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000435950.1:n.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000534405.5:c.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000434353.1:n.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTT... | |
| NM_000543.4:c.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_000534.3:n.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001007593.2:c.1088+206_1088+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001007594.2:n.1088+206_1088+207insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005253075.3:c.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_005253132.1:n.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_011520303.1:c.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011518605.1:n.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XM_011520304.1:c.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011518606.1:n.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XR_930886.1:n.1429+166_1429+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_001318087.1:c.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001305016.1:n.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001318088.1:c.170+166_170+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001305017.1:n.170+166_170+167insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001365135.1:c.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001352064.1:n.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NR_027400.2:n.1276+206_1276+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_134502.1:n.624-854_624-853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_011520304.2:c.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_011518606.1:n.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| XR_001747940.2:n.1256+166_1256+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_002957158.1:n.1256+166_1256+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_000543.5:c.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_000534.3:n.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001007593.3:c.1088+206_1088+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001007594.2:n.1088+206_1088+207insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001318087.2:c.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001305016.1:n.1091+206_1091+207insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001318088.2:c.170+166_170+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001305017.1:n.170+166_170+167insTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_001365135.2:c.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_001352064.1:n.1131+166_1131+167insTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NR_027400.3:n.1216+206_1216+207insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| NR_134502.2:n.564-854_564-853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT |