Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48615050_48615057delinsGCCTGCAC , CM000681.2:g.48615050_48615057delinsGCCTGCAC | GRCh38 |
| NC_000019.9:g.49118307_49118314delinsGCCTGCAC , CM000681.1:g.49118307_49118314delinsGCCTGCAC | GRCh37 |
| NC_000019.8:g.53810119_53810126delinsGCCTGCAC | NCBI36 |
| NG_029867.1:g.760_767delinsGCCTGCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263266.4:c.-1508_-1501delinsGTGCAGGC MANE Select | ENSP00000263266.2:n.-1508_-1501delinsGTGCAGGC | |
| XM_024451561.1:c.-1504_-1497delinsGTGCAGGC | XP_024307329.1:n.-1504_-1497delinsGTGCAGGC | |
| NM_017708.4:c.-1508_-1501delinsGTGCAGGC MANE Select | NP_060178.2:n.-1508_-1501delinsGTGCAGGC |