Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109870501_109870503del , CM000666.2:g.109870501_109870503del | GRCh38 |
| NC_000004.11:g.110791657_110791659del , CM000666.1:g.110791657_110791659del | GRCh37 |
| NC_000004.10:g.111011106_111011108del | NCBI36 |
| NG_033249.1:g.27318_27320del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198506.5:c.1752_1754del MANE Select | NP_940908.3:p.Leu585del |
| ENST00000594814.6:c.1752_1754del MANE Select | ENSP00000469759.1:p.Leu585del |
| NM_198506.4:c.1752_1754del | NP_940908.3:p.Leu585del |
| ENST00000327908.3:c.1203_1205del | ENSP00000328222.3:p.Leu402del |
| ENST00000594814.5:c.1752_1754del | ENSP00000469759.1:p.Leu585del |
| XM_005262979.2:c.1203_1205del | XP_005263036.1:p.Leu402del |
| XM_017008167.1:c.1203_1205del | XP_016863656.1:p.Leu402del |