Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87714840_87714858del , CM000672.2:g.87714840_87714858del | GRCh38 |
| NC_000010.10:g.89474597_89474615del , CM000672.1:g.89474597_89474615del | GRCh37 |
| NC_000010.9:g.89464577_89464595del | NCBI36 |
| NG_012150.1:g.60122_60140del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.616_634del MANE Select | ENSP00000406157.1:p.Val206SerfsTer9 | |
| ENST00000361175.8:c.616_634del | ENSP00000354436.4:p.Val206SerfsTer9 | |
| ENST00000456849.1:c.616_634del | ENSP00000406157.1:p.Val206SerfsTer9 | |
| NM_001015880.1:c.616_634del | NP_001015880.1:p.Val206SerfsTer9 | |
| NM_004670.3:c.616_634del | NP_004661.2:p.Val206SerfsTer9 | |
| NM_001015880.2:c.616_634del MANE Select | NP_001015880.1:p.Val206SerfsTer9 | |
| NM_004670.4:c.616_634del | NP_004661.2:p.Val206SerfsTer9 |