Linked Data
dbSNP Id:
rs1450753443
MyVariant Identifiers:
chr5:g.125887746_125887747insTTTTCT (hg19)
chr5:g.126552054_126552055insTTTTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126552054_126552055insTTTTCT , CM000667.2:g.126552054_126552055insTTTTCT | GRCh38 |
| NC_000005.9:g.125887746_125887747insTTTTCT , CM000667.1:g.125887746_125887747insTTTTCT | GRCh37 |
| NC_000005.8:g.125915645_125915646insTTTTCT | NCBI36 |
| NG_008600.2:g.48336_48337insAGAAAA | |
| NG_008600.3:g.48336_48337insAGAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1283_1284insAGAAAA MANE Select | ENSP00000387123.3:p.Thr428_Phe429insGluAsn | |
| ENST00000458249.6:c.*1192_*1193insAGAAAA | ENSP00000403929.1:n.*1192_*1193insAGAAAA | |
| ENST00000497231.7:n.1710_1711insAGAAAA | ||
| ENST00000503281.6:c.872_873insAGAAAA | ||
| ENST00000635851.1:c.1281_1282insAGAAAA | ||
| ENST00000636062.1:n.1178_1179insAGAAAA | ||
| ENST00000636225.1:c.*1227_*1228insAGAAAA | ENSP00000490797.1:n.*1227_*1228insAGAAAA | |
| ENST00000636286.1:n.1001_1002insAGAAAA | ||
| ENST00000636482.1:n.770_771insAGAAAA | ||
| ENST00000636743.1:c.1163_1164insAGAAAA | ENSP00000489725.1:p.Thr388_Phe389insGluAsn | |
| ENST00000636808.1:c.*1092_*1093insAGAAAA | ENSP00000490833.1:n.*1092_*1093insAGAAAA | |
| ENST00000636872.1:c.1443_1444insAGAAAA | ENSP00000490919.1:n.1443_1444insAGAAAA | |
| ENST00000636879.1:c.1328_1329insAGAAAA | ENSP00000490811.1:p.Thr443_Phe444insGluAsn | |
| ENST00000636886.1:c.1082_1083insAGAAAA | ENSP00000490371.1:p.Thr361_Phe362insGluAsn | |
| ENST00000637206.1:c.1103_1104insAGAAAA | ENSP00000489895.1:p.Thr368_Phe369insGluAsn | |
| ENST00000637272.1:c.1274_1275insAGAAAA | ENSP00000489686.1:p.Thr425_Phe426insGluAsn | |
| ENST00000637292.1:c.774-1762_774-1761insAGAAAA | ||
| ENST00000637782.1:c.1283_1284insAGAAAA | ENSP00000490024.1:p.Thr428_Phe429insGluAsn | |
| ENST00000638008.1:c.*1127_*1128insAGAAAA | ENSP00000490400.1:n.*1127_*1128insAGAAAA | |
| ENST00000638010.1:n.1229_1230insAGAAAA | ||
| ENST00000409134.7:c.1283_1284insAGAAAA | ENSP00000387123.3:p.Thr428_Phe429insGluAsn | |
| ENST00000447989.6:c.1172_1173insAGAAAA | ENSP00000414132.2:p.Thr391_Phe392insGluAsn | |
| ENST00000476328.1:n.48_49insAGAAAA | ||
| ENST00000497231.6:n.1493_1494insAGAAAA | ||
| ENST00000503281.5:c.872_873insAGAAAA | ||
| ENST00000553117.5:c.1091_1092insAGAAAA | ENSP00000448593.1:p.Thr364_Phe365insGluAsn | |
| NM_001182.4:c.1283_1284insAGAAAA | NP_001173.2:p.Thr428_Phe429insGluAsn | |
| NM_001201377.1:c.1199_1200insAGAAAA | NP_001188306.1:p.Thr400_Phe401insGluAsn | |
| NM_001202404.1:c.1172_1173insAGAAAA | NP_001189333.1:p.Thr391_Phe392insGluAsn | |
| XM_011543417.1:c.878_879insAGAAAA | XP_011541719.1:p.Thr293_Phe294insGluAsn | |
| XM_011543417.2:c.878_879insAGAAAA | XP_011541719.1:p.Thr293_Phe294insGluAsn | |
| NM_001182.5:c.1283_1284insAGAAAA MANE Select | NP_001173.2:p.Thr428_Phe429insGluAsn | |
| NM_001201377.2:c.1199_1200insAGAAAA | NP_001188306.1:p.Thr400_Phe401insGluAsn | |
| NM_001202404.2:c.1091_1092insAGAAAA | NP_001189333.2:p.Thr364_Phe365insGluAsn |