Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813811del , CM000671.2:g.129813811del | GRCh38 |
| NC_000009.11:g.132576090del , CM000671.1:g.132576090del | GRCh37 |
| NC_000009.10:g.131615911del | NCBI36 |
| NG_008049.1:g.15352del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*161del MANE Select | ENSP00000345719.4:n.*161del | |
| ENST00000651202.1:c.*428del | ENSP00000498222.1:n.*428del | |
| ENST00000351698.4:c.*161del | ENSP00000345719.4:n.*161del | |
| ENST00000474192.1:n.744del | ||
| NM_000113.2:c.*161del | NP_000104.1:n.*161del | |
| XR_929731.3:n.1355del | ||
| NM_000113.3:c.*161del MANE Select | NP_000104.1:n.*161del |