Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745993_41746025dup , CM000666.2:g.41745993_41746025dup | GRCh38 |
| NC_000004.11:g.41748010_41748042dup , CM000666.1:g.41748010_41748042dup | GRCh37 |
| NC_000004.10:g.41442767_41442799dup | NCBI36 |
| NG_008243.1:g.7954_7986dup , LRG_513:g.7954_7986dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.735_767dup MANE Select | ENSP00000226382.2:p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| ENST00000226382.3:c.735_767dup | ENSP00000226382.2:p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_003924.3:c.735_767dup , LRG_513t1:c.735_767dup | NP_003915.2:p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA... | |
| NM_003924.4:c.735_767dup MANE Select | NP_003915.2:p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA... |