Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745917_41745918insT , CM000666.2:g.41745917_41745918insT | GRCh38 |
| NC_000004.11:g.41747934_41747935insT , CM000666.1:g.41747934_41747935insT | GRCh37 |
| NC_000004.10:g.41442691_41442692insT | NCBI36 |
| NG_008243.1:g.8053_8054insA , LRG_513:g.8053_8054insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.834_835insA MANE Select | ENSP00000226382.2:p.Pro279ThrfsTer? | |
| ENST00000226382.3:c.834_835insA | ENSP00000226382.2:p.Pro279ThrfsTer? | |
| NM_003924.3:c.834_835insA , LRG_513t1:c.834_835insA | NP_003915.2:p.Pro279ThrfsTer? | |
| NM_003924.4:c.834_835insA MANE Select | NP_003915.2:p.Pro279ThrfsTer? |