Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745911_41745918del , CM000666.2:g.41745911_41745918del | GRCh38 |
| NC_000004.11:g.41747928_41747935del , CM000666.1:g.41747928_41747935del | GRCh37 |
| NC_000004.10:g.41442685_41442692del | NCBI36 |
| NG_008243.1:g.8055_8062del , LRG_513:g.8055_8062del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.836_843del MANE Select | ENSP00000226382.2:p.Pro279LeufsTer? | |
| ENST00000226382.3:c.836_843del | ENSP00000226382.2:p.Pro279LeufsTer? | |
| NM_003924.3:c.836_843del , LRG_513t1:c.836_843del | NP_003915.2:p.Pro279LeufsTer? | |
| NM_003924.4:c.836_843del MANE Select | NP_003915.2:p.Pro279LeufsTer? |