Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122794_72122795delinsTA , CM000679.2:g.72122794_72122795delinsTA | GRCh38 |
| NC_000017.10:g.70118935_70118936delinsTA , CM000679.1:g.70118935_70118936delinsTA | GRCh37 |
| NC_000017.9:g.67630530_67630531delinsTA | NCBI36 |
| NG_012490.1:g.6775_6776delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000346.4:c.507_508delinsTA MANE Select | NP_000337.1:p.Pro170Thr |
| ENST00000245479.3:c.507_508delinsTA MANE Select | ENSP00000245479.2:p.Pro170Thr |
| NM_000346.3:c.507_508delinsTA | NP_000337.1:p.Pro170Thr |
| ENST00000245479.2:c.507_508delinsTA | ENSP00000245479.2:p.Pro170Thr |