Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956555del , CM000670.2:g.24956555del | GRCh38 |
| NC_000008.10:g.24814069del , CM000670.1:g.24814069del | GRCh37 |
| NC_000008.9:g.24869986del | NCBI36 |
| NG_008492.1:g.5065del , LRG_259:g.5065del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.-38del MANE Select | ENSP00000482169.2:n.-38del | |
| ENST00000610854.1:c.-38del | ENSP00000482169.1:n.-38del | |
| ENST00000615973.1:n.169del | ||
| ENST00000619417.1:c.-38del | ENSP00000483690.1:n.-38del | |
| NM_006158.4:c.-38del , LRG_259t1:c.-38del | NP_006149.2:n.-38del | |
| NM_006158.5:c.-38del MANE Select | NP_006149.2:n.-38del |