Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746251_41746268dup , CM000666.2:g.41746251_41746268dup | GRCh38 |
| NC_000004.11:g.41748268_41748285dup , CM000666.1:g.41748268_41748285dup | GRCh37 |
| NC_000004.10:g.41443025_41443042dup | NCBI36 |
| NG_008243.1:g.7703_7720dup , LRG_513:g.7703_7720dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.484_501dup MANE Select | ENSP00000226382.2:p.Ala167_Lys168insAlaAlaAlaAlaAlaAla | |
| ENST00000226382.3:c.484_501dup | ENSP00000226382.2:p.Ala167_Lys168insAlaAlaAlaAlaAlaAla | |
| ENST00000510424.2:n.305_322dup | ||
| NM_003924.3:c.484_501dup , LRG_513t1:c.484_501dup | NP_003915.2:p.Ala167_Lys168insAlaAlaAlaAlaAlaAla | |
| NM_003924.4:c.484_501dup MANE Select | NP_003915.2:p.Ala167_Lys168insAlaAlaAlaAlaAlaAla |