Linked Data
gnomAD v2:
1-78407841-A-ATGATTAACAT
MyVariant Identifiers:
chr1:g.78407841_78407842insTGATTAACAT (hg19)
chr1:g.77942156_77942157insTGATTAACAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942156_77942157insTGATTAACAT , CM000663.2:g.77942156_77942157insTGATTAACAT | GRCh38 |
| NC_000001.10:g.78407841_78407842insTGATTAACAT , CM000663.1:g.78407841_78407842insTGATTAACAT | GRCh37 |
| NC_000001.9:g.78180429_78180430insTGATTAACAT | NCBI36 |
| NG_016625.1:g.58642_58643insTGATTAACAT , LRG_442:g.58642_58643insTGATTAACAT | |
| NG_033243.2:g.41937_41938insATGTTAATCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1607_1608insTGATTAACAT MANE Select | ENSP00000333938.7:p.Lys536AsnfsTer3 | |
| ENST00000330010.12:c.1415_1416insTGATTAACAT | ENSP00000327363.8:p.Lys472AsnfsTer3 | |
| ENST00000334785.11:c.1607_1608insTGATTAACAT | ENSP00000333938.7:p.Lys536AsnfsTer3 | |
| ENST00000342754.5:c.1306_1307insTGATTAACAT | ||
| ENST00000470735.1:n.446_447insTGATTAACAT | ||
| ENST00000480732.2:n.1181_1182insTGATTAACAT | ||
| NM_001172309.1:c.1415_1416insTGATTAACAT | NP_001165780.1:p.Lys472AsnfsTer3 | |
| NM_144573.3:c.1607_1608insTGATTAACAT , LRG_442t1:c.1607_1608insTGATTAACAT | NP_653174.3:p.Lys536AsnfsTer3 | |
| XM_005271322.2:c.1607_1608insTGATTAACAT | XP_005271379.1:p.Lys536AsnfsTer3 | |
| XM_005271323.2:c.1565_1566insTGATTAACAT | XP_005271380.1:p.Lys522AsnfsTer3 | |
| XM_005271324.3:c.1415_1416insTGATTAACAT | XP_005271381.1:p.Lys472AsnfsTer3 | |
| XM_005271325.2:c.1385_1386insTGATTAACAT | XP_005271382.1:p.Lys462AsnfsTer3 | |
| XM_005271326.2:c.1373_1374insTGATTAACAT | XP_005271383.1:p.Lys458AsnfsTer3 | |
| XM_005271327.2:c.1190_1191insTGATTAACAT | XP_005271384.1:p.Lys397AsnfsTer3 | |
| XM_005271322.4:c.1607_1608insTGATTAACAT | XP_005271379.1:p.Lys536AsnfsTer3 | |
| XM_005271323.4:c.1565_1566insTGATTAACAT | XP_005271380.1:p.Lys522AsnfsTer3 | |
| XM_005271324.5:c.1415_1416insTGATTAACAT | XP_005271381.1:p.Lys472AsnfsTer3 | |
| XM_005271325.4:c.1385_1386insTGATTAACAT | XP_005271382.1:p.Lys462AsnfsTer3 | |
| XM_005271326.4:c.1373_1374insTGATTAACAT | XP_005271383.1:p.Lys458AsnfsTer3 | |
| XM_005271327.4:c.1190_1191insTGATTAACAT | XP_005271384.1:p.Lys397AsnfsTer3 | |
| NM_001172309.2:c.1415_1416insTGATTAACAT | NP_001165780.1:p.Lys472AsnfsTer3 | |
| NM_144573.4:c.1607_1608insTGATTAACAT MANE Select | NP_653174.3:p.Lys536AsnfsTer3 |