Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980986_149980987del , CM000667.2:g.149980986_149980987del | GRCh38 |
| NC_000005.9:g.149360549_149360550del , CM000667.1:g.149360549_149360550del | GRCh37 |
| NC_000005.8:g.149340742_149340743del | NCBI36 |
| NG_007147.2:g.22104_22105del , LRG_684:g.22104_22105del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1393_1394del MANE Select | ENSP00000286298.4:p.Leu465ValfsTer? | |
| ENST00000286298.4:c.1393_1394del | ENSP00000286298.4:p.Leu465ValfsTer? | |
| ENST00000503336.1:c.372+2635_372+2636del | ENSP00000426053.1:n.372+2635_372+2636del | |
| NM_000112.3:c.1393_1394del , LRG_684t1:c.1393_1394del | NP_000103.2:p.Leu465ValfsTer? | |
| XM_017009191.2:c.1393_1394del | XP_016864680.1:p.Leu465ValfsTer? | |
| NM_000112.4:c.1393_1394del MANE Select | NP_000103.2:p.Leu465ValfsTer? |