Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780525_6780527delinsCAT , CM000679.2:g.6780525_6780527delinsCAT | GRCh38 |
| NC_000017.10:g.6683844_6683846delinsCAT , CM000679.1:g.6683844_6683846delinsCAT | GRCh37 |
| NC_000017.9:g.6624568_6624570delinsCAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.657_659delinsCAT MANE Select | ENSP00000321386.4:p.Thr219= | |
| ENST00000321535.4:c.657_659delinsCAT | ENSP00000321386.4:p.Thr219= | |
| NM_153230.2:c.657_659delinsCAT | NP_694962.1:p.Thr219= | |
| XM_011523697.1:c.657_659delinsCAT | XP_011521999.1:p.Thr219= | |
| XR_243544.3:n.835_837delinsCAT | ||
| NM_153230.3:c.657_659delinsCAT MANE Select | NP_694962.1:p.Thr219= |