Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746257_41746268dup , CM000666.2:g.41746257_41746268dup | GRCh38 |
| NC_000004.11:g.41748274_41748285dup , CM000666.1:g.41748274_41748285dup | GRCh37 |
| NC_000004.10:g.41443031_41443042dup | NCBI36 |
| NG_008243.1:g.7705_7716dup , LRG_513:g.7705_7716dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.486_497dup MANE Select | ENSP00000226382.2:p.Ala166_Ala167insAlaAlaAlaAla | |
| ENST00000226382.3:c.486_497dup | ENSP00000226382.2:p.Ala166_Ala167insAlaAlaAlaAla | |
| ENST00000510424.2:n.307_318dup | ||
| NM_003924.3:c.486_497dup , LRG_513t1:c.486_497dup | NP_003915.2:p.Ala166_Ala167insAlaAlaAlaAla | |
| NM_003924.4:c.486_497dup MANE Select | NP_003915.2:p.Ala166_Ala167insAlaAlaAlaAla |