Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24429114del , CM000668.2:g.24429114del | GRCh38 |
| NC_000006.11:g.24429342del , CM000668.1:g.24429342del | GRCh37 |
| NC_000006.10:g.24537321del | NCBI36 |
| NG_029888.2:g.65510del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230036.2:c.2442del MANE Select | ENSP00000230036.1:p.Val815SerfsTer? | |
| ENST00000230036.1:c.2442del | ENSP00000230036.1:p.Val815SerfsTer? | |
| ENST00000492917.2:n.317del | ||
| NM_001503.3:c.2442del | NP_001494.2:p.Val815SerfsTer? | |
| XM_005249018.1:c.1953del | XP_005249075.1:p.Val652SerfsTer? | |
| XM_017010753.2:c.2472del | XP_016866242.1:p.Val825SerfsTer? | |
| XM_024446403.1:c.1953del | XP_024302171.1:p.Val652SerfsTer? | |
| XR_002956277.1:n.2654del | ||
| NM_001503.4:c.2442del MANE Select | NP_001494.2:p.Val815SerfsTer? |