Linked Data
dbSNP Id:
rs866769697
MyVariant Identifiers:
chr16:g.68835641_68835642insGCACA (hg19)
chr16:g.68801738_68801739insGCACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68801740_68801744dup , CM000678.2:g.68801740_68801744dup | GRCh38 |
| NC_000016.9:g.68835643_68835647dup , CM000678.1:g.68835643_68835647dup | GRCh37 |
| NC_000016.8:g.67393144_67393148dup | NCBI36 |
| NG_008021.1:g.69449_69453dup , LRG_301:g.69449_69453dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.234_238dup MANE Select | ENSP00000261769.4:p.Asp80AlafsTer5 | |
| ENST00000261769.9:c.234_238dup | ENSP00000261769.4:p.Asp80AlafsTer5 | |
| ENST00000422392.6:c.234_238dup | ENSP00000414946.2:p.Asp80AlafsTer5 | |
| ENST00000562836.5:n.305_309dup | ||
| ENST00000564676.5:n.516_520dup | ||
| ENST00000564745.1:n.229_233dup | ||
| ENST00000566510.5:c.234_238dup | ENSP00000458139.1:p.Asp80AlafsTer5 | |
| ENST00000566612.5:c.234_238dup | ENSP00000454782.1:p.Asp80AlafsTer5 | |
| ENST00000611625.4:c.234_238dup | ENSP00000481063.1:p.Asp80AlafsTer5 | |
| ENST00000612417.4:c.234_238dup | ENSP00000478360.1:p.Asp80AlafsTer5 | |
| ENST00000621016.4:c.234_238dup | ENSP00000480664.1:p.Asp80AlafsTer5 | |
| NM_004360.3:c.234_238dup , LRG_301t1:c.234_238dup | NP_004351.1:p.Asp80AlafsTer5 | |
| XM_011523488.1:c.-502_-498dup | XP_011521790.1:n.-502_-498dup | |
| XM_011523489.1:c.-502_-498dup | XP_011521791.1:n.-502_-498dup | |
| NM_001317184.1:c.234_238dup | NP_001304113.1:p.Asp80AlafsTer5 | |
| NM_001317185.1:c.-1382_-1378dup | NP_001304114.1:n.-1382_-1378dup | |
| NM_001317186.1:c.-1586_-1582dup | NP_001304115.1:n.-1586_-1582dup | |
| NM_004360.4:c.234_238dup | NP_004351.1:p.Asp80AlafsTer5 | |
| NM_004360.5:c.234_238dup MANE Select | NP_004351.1:p.Asp80AlafsTer5 | |
| NM_001317184.2:c.234_238dup | NP_001304113.1:p.Asp80AlafsTer5 | |
| NM_001317185.2:c.-1382_-1378dup | NP_001304114.1:n.-1382_-1378dup | |
| NM_001317186.2:c.-1586_-1582dup | NP_001304115.1:n.-1586_-1582dup |