Linked Data
dbSNP Id:
rs1847967901
gnomAD v3:
11-6392366-G-GTTTTTTT
gnomAD v4:
11-6392366-G-GTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6392366_6392367insTTTTTTT , CM000673.2:g.6392366_6392367insTTTTTTT | GRCh38 |
| NC_000011.9:g.6413596_6413597insTTTTTTT , CM000673.1:g.6413596_6413597insTTTTTTT | GRCh37 |
| NC_000011.8:g.6370172_6370173insTTTTTTT | NCBI36 |
| NG_011780.1:g.6942_6943insTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1091+210_1091+211insTTTTTTT MANE Select | ENSP00000340409.4:n.1091+210_1091+211insTTTTTTT | |
| ENST00000342245.8:c.1091+210_1091+211insTTTTTTT | ENSP00000340409.4:n.1091+210_1091+211insTTTTTTT | |
| ENST00000526280.1:c.320+170_320+171insTTTTTTT | ||
| ENST00000527275.5:c.1088+210_1088+211insTTTTTTT | ENSP00000435350.1:n.1088+210_1088+211insTTTTTTT | |
| ENST00000531303.5:c.439-850_439-849insTTTTTTT | ENSP00000432625.1:n.439-850_439-849insTTTTTTT | |
| ENST00000533123.5:c.1091+210_1091+211insTTTTTTT | ENSP00000435950.1:n.1091+210_1091+211insTTTTTTT | |
| ENST00000534405.5:c.1131+170_1131+171insTTTTTTT | ENSP00000434353.1:n.1131+170_1131+171insTTTTTTT | |
| NM_000543.4:c.1091+210_1091+211insTTTTTTT | NP_000534.3:n.1091+210_1091+211insTTTTTTT | |
| NM_001007593.2:c.1088+210_1088+211insTTTTTTT | NP_001007594.2:n.1088+210_1088+211insTTTTTTT | |
| XM_005253075.3:c.1091+210_1091+211insTTTTTTT | XP_005253132.1:n.1091+210_1091+211insTTTTTTT | |
| XM_011520303.1:c.1131+170_1131+171insTTTTTTT | XP_011518605.1:n.1131+170_1131+171insTTTTTTT | |
| XM_011520304.1:c.1131+170_1131+171insTTTTTTT | XP_011518606.1:n.1131+170_1131+171insTTTTTTT | |
| XR_930886.1:n.1429+170_1429+171insTTTTTTT | ||
| NM_001318087.1:c.1091+210_1091+211insTTTTTTT | NP_001305016.1:n.1091+210_1091+211insTTTTTTT | |
| NM_001318088.1:c.170+170_170+171insTTTTTTT | NP_001305017.1:n.170+170_170+171insTTTTTTT | |
| NM_001365135.1:c.1131+170_1131+171insTTTTTTT | NP_001352064.1:n.1131+170_1131+171insTTTTTTT | |
| NR_027400.2:n.1276+210_1276+211insTTTTTTT | ||
| NR_134502.1:n.624-850_624-849insTTTTTTT | ||
| XM_011520304.2:c.1131+170_1131+171insTTTTTTT | XP_011518606.1:n.1131+170_1131+171insTTTTTTT | |
| XR_001747940.2:n.1256+170_1256+171insTTTTTTT | ||
| XR_002957158.1:n.1256+170_1256+171insTTTTTTT | ||
| NM_000543.5:c.1091+210_1091+211insTTTTTTT MANE Select | NP_000534.3:n.1091+210_1091+211insTTTTTTT | |
| NM_001007593.3:c.1088+210_1088+211insTTTTTTT | NP_001007594.2:n.1088+210_1088+211insTTTTTTT | |
| NM_001318087.2:c.1091+210_1091+211insTTTTTTT | NP_001305016.1:n.1091+210_1091+211insTTTTTTT | |
| NM_001318088.2:c.170+170_170+171insTTTTTTT | NP_001305017.1:n.170+170_170+171insTTTTTTT | |
| NM_001365135.2:c.1131+170_1131+171insTTTTTTT | NP_001352064.1:n.1131+170_1131+171insTTTTTTT | |
| NR_027400.3:n.1216+210_1216+211insTTTTTTT | ||
| NR_134502.2:n.564-850_564-849insTTTTTTT |