Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746045_41746046insT , CM000666.2:g.41746045_41746046insT | GRCh38 |
| NC_000004.11:g.41748062_41748063insT , CM000666.1:g.41748062_41748063insT | GRCh37 |
| NC_000004.10:g.41442819_41442820insT | NCBI36 |
| NG_008243.1:g.7925_7926insA , LRG_513:g.7925_7926insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.706_707insA MANE Select | ENSP00000226382.2:p.Pro236HisfsTer? | |
| ENST00000226382.3:c.706_707insA | ENSP00000226382.2:p.Pro236HisfsTer? | |
| ENST00000510424.2:n.527_528insA | ||
| NM_003924.3:c.706_707insA , LRG_513t1:c.706_707insA | NP_003915.2:p.Pro236HisfsTer? | |
| NM_003924.4:c.706_707insA MANE Select | NP_003915.2:p.Pro236HisfsTer? |