Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746166del , CM000666.2:g.41746166del | GRCh38 |
| NC_000004.11:g.41748183del , CM000666.1:g.41748183del | GRCh37 |
| NC_000004.10:g.41442940del | NCBI36 |
| NG_008243.1:g.7809del , LRG_513:g.7809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.590del MANE Select | ENSP00000226382.2:p.Gly197AlafsTer? | |
| ENST00000226382.3:c.590del | ENSP00000226382.2:p.Gly197AlafsTer? | |
| ENST00000510424.2:n.411del | ||
| NM_003924.3:c.590del , LRG_513t1:c.590del | NP_003915.2:p.Gly197AlafsTer? | |
| NM_003924.4:c.590del MANE Select | NP_003915.2:p.Gly197AlafsTer? |