Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814041_129814043del , CM000671.2:g.129814041_129814043del | GRCh38 |
| NC_000009.11:g.132576320_132576322del , CM000671.1:g.132576320_132576322del | GRCh37 |
| NC_000009.10:g.131616141_131616143del | NCBI36 |
| NG_008049.1:g.15123_15125del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.931_933del MANE Select | ENSP00000345719.4:p.Glu311del | |
| ENST00000651202.1:c.*199_*201del | ENSP00000498222.1:n.*199_*201del | |
| ENST00000351698.4:c.931_933del | ENSP00000345719.4:p.Glu311del | |
| ENST00000474192.1:n.515_517del | ||
| NM_000113.2:c.931_933del | NP_000104.1:p.Glu311del | |
| XR_929731.1:n.1258_1260del | ||
| XR_929731.3:n.1126_1128del | ||
| NM_000113.3:c.931_933del MANE Select | NP_000104.1:p.Glu311del |