Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542018del , CM000671.2:g.98542018del | GRCh38 |
| NC_000009.11:g.101304300del , CM000671.1:g.101304300del | GRCh37 |
| NC_000009.10:g.100344121del | NCBI36 |
| NG_016426.1:g.172181del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.486del MANE Select | ENSP00000259455.2:p.Leu163Ter | |
| ENST00000637410.1:n.264del | ||
| ENST00000637717.1:c.102del | ENSP00000490789.1:p.Leu35Ter | |
| ENST00000638001.1:n.96del | ||
| ENST00000259455.3:c.486del | ENSP00000259455.2:p.Leu163Ter | |
| ENST00000477471.1:n.273del | ||
| ENST00000634227.1:n.260del | ||
| NM_005458.7:c.486del | NP_005449.5:p.Leu163Ter | |
| XM_017015331.2:c.192del | XP_016870820.1:p.Leu65Ter | |
| NM_005458.8:c.486del MANE Select | NP_005449.5:p.Leu163Ter |