Linked Data
dbSNP Id:
rs1865522276
gnomAD v3:
12-10017743-G-GTATAGTAT
gnomAD v4:
12-10017743-G-GTATAGTAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10017743_10017744insTATAGTAT , CM000674.2:g.10017743_10017744insTATAGTAT | GRCh38 |
| NC_000012.11:g.10170342_10170343insTATAGTAT , CM000674.1:g.10170342_10170343insTATAGTAT | GRCh37 |
| NC_000012.10:g.10061609_10061610insTATAGTAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338896.11:c.681-588_681-587insTATAGTAT MANE Select | ENSP00000344563.5:n.681-588_681-587insTATAGTAT | |
| ENST00000338896.10:c.681-588_681-587insTATAGTAT | ENSP00000344563.5:n.681-588_681-587insTATAGTAT | |
| ENST00000338896.9:c.681-588_681-587insTATAGTAT | ENSP00000344563.5:n.681-588_681-587insTATAGTAT | |
| ENST00000396502.5:c.*1997_*1998insTATAGTAT | ENSP00000379759.1:n.*1997_*1998insTATAGTAT | |
| ENST00000539155.1:c.*2490_*2491insTATAGTAT | ENSP00000444909.1:n.*2490_*2491insTATAGTAT | |
| ENST00000544853.5:c.*129-588_*129-587insTATAGTAT | ENSP00000439561.1:n.*129-588_*129-587insTATAGTAT | |
| NM_001129998.1:c.681-588_681-587insTATAGTAT | NP_001123470.1:n.681-588_681-587insTATAGTAT | |
| NM_205852.2:c.*1997_*1998insTATAGTAT | NP_995324.2:n.*1997_*1998insTATAGTAT | |
| NR_120484.1:n.249-1971_249-1970insATACTATA | ||
| XM_006719070.2:c.681-675_681-674insTATAGTAT | XP_006719133.1:n.681-675_681-674insTATAGTAT | |
| XM_006719071.2:c.*3-588_*3-587insTATAGTAT | XP_006719134.1:n.*3-588_*3-587insTATAGTAT | |
| XM_006719072.1:c.*770_*771insTATAGTAT | XP_006719135.1:n.*770_*771insTATAGTAT | |
| XM_011520658.1:c.654-588_654-587insTATAGTAT | XP_011518960.1:n.654-588_654-587insTATAGTAT | |
| XM_011520659.1:c.*746_*747insTATAGTAT | XP_011518961.1:n.*746_*747insTATAGTAT | |
| XM_011520660.1:c.*741_*742insTATAGTAT | XP_011518962.1:n.*741_*742insTATAGTAT | |
| XM_011520661.1:c.*10-588_*10-587insTATAGTAT | XP_011518963.1:n.*10-588_*10-587insTATAGTAT | |
| XM_011520662.1:c.*777_*778insTATAGTAT | XP_011518964.1:n.*777_*778insTATAGTAT | |
| XM_011520663.1:c.526-588_526-587insTATAGTAT | XP_011518965.1:n.526-588_526-587insTATAGTAT | |
| XM_011520664.1:c.526-675_526-674insTATAGTAT | XP_011518966.1:n.526-675_526-674insTATAGTAT | |
| XR_242889.3:n.956-588_956-587insTATAGTAT | ||
| XR_931290.1:n.1723_1724insTATAGTAT | ||
| NM_001129998.2:c.681-588_681-587insTATAGTAT | NP_001123470.1:n.681-588_681-587insTATAGTAT | |
| NM_001319241.1:c.372-588_372-587insTATAGTAT | NP_001306170.1:n.372-588_372-587insTATAGTAT | |
| NM_001319242.1:c.*1997_*1998insTATAGTAT | NP_001306171.1:n.*1997_*1998insTATAGTAT | |
| NM_205852.3:c.*1997_*1998insTATAGTAT | NP_995324.2:n.*1997_*1998insTATAGTAT | |
| NR_135049.1:n.961-588_961-587insTATAGTAT | ||
| XM_011520658.2:c.654-588_654-587insTATAGTAT | XP_011518960.1:n.654-588_654-587insTATAGTAT | |
| XM_011520663.2:c.526-588_526-587insTATAGTAT | XP_011518965.1:n.526-588_526-587insTATAGTAT | |
| XM_017019295.1:c.372-588_372-587insTATAGTAT | XP_016874784.1:n.372-588_372-587insTATAGTAT | |
| XM_024448976.1:c.681-675_681-674insTATAGTAT | XP_024304744.1:n.681-675_681-674insTATAGTAT | |
| XM_024448977.1:c.*2004_*2005insTATAGTAT | XP_024304745.1:n.*2004_*2005insTATAGTAT | |
| XR_002957401.1:n.106-1596_106-1595insATACTATA | ||
| NM_001129998.3:c.681-588_681-587insTATAGTAT MANE Select | NP_001123470.1:n.681-588_681-587insTATAGTAT | |
| NM_001387138.1:c.681-675_681-674insTATAGTAT | NP_001374067.1:n.681-675_681-674insTATAGTAT | |
| NR_169587.1:n.258-1596_258-1595insATACTATA |