Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225718_3225719insT , CM000668.2:g.3225718_3225719insT | GRCh38 |
| NC_000006.11:g.3225952_3225953insT , CM000668.1:g.3225952_3225953insT | GRCh37 |
| NC_000006.10:g.3170951_3170952insT | NCBI36 |
| NG_016715.1:g.7016_7017insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.370_371insA MANE Select | ENSP00000259818.6:p.Ser124TyrfsTer5 | |
| ENST00000680070.1:n.1300_1301insA | ||
| ENST00000681707.1:n.1197_1198insA | ||
| ENST00000681757.1:n.675_676insA | ||
| ENST00000259818.7:c.370_371insA | ENSP00000259818.6:p.Ser124TyrfsTer5 | |
| ENST00000473006.1:n.487_488insA | ||
| NM_178012.4:c.370_371insA | NP_821080.1:p.Ser124TyrfsTer5 | |
| XM_011514571.1:c.154_155insA | XP_011512873.1:p.Ser52TyrfsTer5 | |
| NM_178012.5:c.370_371insA MANE Select | NP_821080.1:p.Ser124TyrfsTer5 |