Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945611_138945612delinsTG , CM000665.2:g.138945611_138945612delinsTG | GRCh38 |
| NC_000003.11:g.138664453_138664454delinsTG , CM000665.1:g.138664453_138664454delinsTG | GRCh37 |
| NC_000003.10:g.140147143_140147144delinsTG | NCBI36 |
| NG_012454.1:g.6529_6530delinsCA | |
| NG_029796.1:g.3378_3379delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1111_1112delinsCA MANE Select | ENSP00000497217.1:p.His371= | |
| ENST00000330315.3:c.1111_1112delinsCA | ENSP00000333188.3:p.His371= | |
| NM_023067.3:c.1111_1112delinsCA | NP_075555.1:p.His371= | |
| NM_023067.4:c.1111_1112delinsCA MANE Select | NP_075555.1:p.His371= |