Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488406_52488407delinsTG , CM000674.2:g.52488406_52488407delinsTG | GRCh38 |
| NC_000012.11:g.52882190_52882191delinsTG , CM000674.1:g.52882190_52882191delinsTG | GRCh37 |
| NC_000012.10:g.51168457_51168458delinsTG | NCBI36 |
| NG_008298.1:g.9991_9992delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1345_1346delinsCA MANE Select | ENSP00000369317.3:p.Gln449= | |
| ENST00000330722.6:c.1345_1346delinsCA | ENSP00000369317.3:p.Gln449= | |
| NM_005554.3:c.1345_1346delinsCA | NP_005545.1:p.Gln449= | |
| NM_005554.4:c.1345_1346delinsCA MANE Select | NP_005545.1:p.Gln449= |