Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488451_52488452delinsAG , CM000674.2:g.52488451_52488452delinsAG | GRCh38 |
| NC_000012.11:g.52882235_52882236delinsAG , CM000674.1:g.52882235_52882236delinsAG | GRCh37 |
| NC_000012.10:g.51168502_51168503delinsAG | NCBI36 |
| NG_008298.1:g.9946_9947delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1300_1301delinsCT MANE Select | ENSP00000369317.3:p.Leu434= | |
| ENST00000330722.6:c.1300_1301delinsCT | ENSP00000369317.3:p.Leu434= | |
| NM_005554.3:c.1300_1301delinsCT | NP_005545.1:p.Leu434= | |
| NM_005554.4:c.1300_1301delinsCT MANE Select | NP_005545.1:p.Leu434= |