Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35842365_35842366delinsTG , CM000681.2:g.35842365_35842366delinsTG | GRCh38 |
| NC_000019.9:g.36333267_36333268delinsTG , CM000681.1:g.36333267_36333268delinsTG | GRCh37 |
| NC_000019.8:g.41025107_41025108delinsTG | NCBI36 |
| NG_013356.2:g.31922_31923delinsCA , LRG_693:g.31922_31923delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2506+13_2506+14delinsCA MANE Select | ENSP00000368190.4:n.2506+13_2506+14delinsCA | |
| ENST00000353632.6:c.2506+13_2506+14delinsCA | ENSP00000343634.5:n.2506+13_2506+14delinsCA | |
| ENST00000378910.9:c.2506+13_2506+14delinsCA | ENSP00000368190.4:n.2506+13_2506+14delinsCA | |
| NM_004646.3:c.2506+13_2506+14delinsCA , LRG_693t1:c.2506+13_2506+14delinsCA | NP_004637.1:n.2506+13_2506+14delinsCA | |
| NM_004646.4:c.2506+13_2506+14delinsCA MANE Select | NP_004637.1:n.2506+13_2506+14delinsCA |