Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746039_41746051dup , CM000666.2:g.41746039_41746051dup | GRCh38 |
| NC_000004.11:g.41748056_41748068dup , CM000666.1:g.41748056_41748068dup | GRCh37 |
| NC_000004.10:g.41442813_41442825dup | NCBI36 |
| NG_008243.1:g.7921_7933dup , LRG_513:g.7921_7933dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.702_714dup MANE Select | ENSP00000226382.2:p.Gly239ArgfsTer? | |
| ENST00000226382.3:c.702_714dup | ENSP00000226382.2:p.Gly239ArgfsTer? | |
| ENST00000510424.2:n.523_535dup | ||
| NM_003924.3:c.702_714dup , LRG_513t1:c.702_714dup | NP_003915.2:p.Gly239ArgfsTer? | |
| NM_003924.4:c.702_714dup MANE Select | NP_003915.2:p.Gly239ArgfsTer? |