Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945711_138945712delinsTG , CM000665.2:g.138945711_138945712delinsTG | GRCh38 |
| NC_000003.11:g.138664553_138664554delinsTG , CM000665.1:g.138664553_138664554delinsTG | GRCh37 |
| NC_000003.10:g.140147243_140147244delinsTG | NCBI36 |
| NG_012454.1:g.6429_6430delinsCA | |
| NG_029796.1:g.3478_3479delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1011_1012delinsCA MANE Select | ENSP00000497217.1:p.Pro337= | |
| ENST00000330315.3:c.1011_1012delinsCA | ENSP00000333188.3:p.Pro337= | |
| NM_023067.3:c.1011_1012delinsCA | NP_075555.1:p.Pro337= | |
| NM_023067.4:c.1011_1012delinsCA MANE Select | NP_075555.1:p.Pro337= |