Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126830_9126839delinsCCAGCATTGT , CM000681.2:g.9126830_9126839delinsCCAGCATTGT | GRCh38 |
| NC_000019.9:g.9237506_9237515delinsCCAGCATTGT , CM000681.1:g.9237506_9237515delinsCCAGCATTGT | GRCh37 |
| NC_000019.8:g.9098506_9098515delinsCCAGCATTGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.112_121delinsACAATGCTGG MANE Select | ENSP00000302867.2:p.Thr38= | |
| NM_001001958.1:c.112_121delinsACAATGCTGG MANE Select | NP_001001958.1:p.Thr38= |