Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111119059_111119060del , CM000667.2:g.111119059_111119060del | GRCh38 |
| NC_000005.9:g.110454757_110454758del , CM000667.1:g.110454757_110454758del | GRCh37 |
| NC_000005.8:g.110482656_110482657del | NCBI36 |
| NG_008979.1:g.31888_31889del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513710.4:c.1843_1844del MANE Select | ENSP00000424628.3:p.Met615ValfsTer? | |
| ENST00000506538.6:c.2011_2012del | ENSP00000423067.2:p.Met671ValfsTer? | |
| ENST00000513710.3:c.1843_1844del | ENSP00000424628.3:p.Met615ValfsTer? | |
| ENST00000612402.4:c.2011_2012del | ENSP00000479950.1:p.Met671ValfsTer? | |
| NM_139281.2:c.2011_2012del | NP_644810.1:p.Met671ValfsTer? | |
| XM_011543163.1:c.2011_2012del | XP_011541465.1:p.Met671ValfsTer? | |
| NM_139281.3:c.1843_1844del MANE Select | NP_644810.2:p.Met615ValfsTer? |