Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431272_68431273insTGTGCCTC , CM000663.2:g.68431272_68431273insTGTGCCTC | GRCh38 |
| NC_000001.10:g.68896955_68896956insTGTGCCTC , CM000663.1:g.68896955_68896956insTGTGCCTC | GRCh37 |
| NC_000001.9:g.68669543_68669544insTGTGCCTC | NCBI36 |
| NG_008472.1:g.23687_23688insGAGGCACA | |
| NG_008472.2:g.23687_23688insGAGGCACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1338+9_1338+10insGAGGCACA MANE Select | ENSP00000262340.5:n.1338+9_1338+10insGAGGCACA | |
| ENST00000262340.5:c.1338+9_1338+10insGAGGCACA | ENSP00000262340.5:n.1338+9_1338+10insGAGGCACA | |
| NM_000329.2:c.1338+9_1338+10insGAGGCACA | NP_000320.1:n.1338+9_1338+10insGAGGCACA | |
| XM_017002027.1:c.1062+9_1062+10insGAGGCACA | XP_016857516.1:n.1062+9_1062+10insGAGGCACA | |
| NM_000329.3:c.1338+9_1338+10insGAGGCACA MANE Select | NP_000320.1:n.1338+9_1338+10insGAGGCACA |