Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746008_41746025dup , CM000666.2:g.41746008_41746025dup | GRCh38 |
| NC_000004.11:g.41748025_41748042dup , CM000666.1:g.41748025_41748042dup | GRCh37 |
| NC_000004.10:g.41442782_41442799dup | NCBI36 |
| NG_008243.1:g.7960_7977dup , LRG_513:g.7960_7977dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003924.4:c.741_758dup MANE Select | NP_003915.2:p.Ala253_Ala254insAlaAlaAlaAlaAlaAla |
| ENST00000226382.4:c.741_758dup MANE Select | ENSP00000226382.2:p.Ala253_Ala254insAlaAlaAlaAlaAlaAla |
| NM_003924.3:c.741_758dup , LRG_513t1:c.741_758dup | NP_003915.2:p.Ala253_Ala254insAlaAlaAlaAlaAlaAla |
| ENST00000226382.3:c.741_758dup | ENSP00000226382.2:p.Ala253_Ala254insAlaAlaAlaAlaAlaAla |