Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746113_41746115dup , CM000666.2:g.41746113_41746115dup | GRCh38 |
| NC_000004.11:g.41748130_41748132dup , CM000666.1:g.41748130_41748132dup | GRCh37 |
| NC_000004.10:g.41442887_41442889dup | NCBI36 |
| NG_008243.1:g.7867_7869dup , LRG_513:g.7867_7869dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003924.4:c.648_650dup MANE Select | NP_003915.2:p.Gly217_Pro218insGly |
| ENST00000226382.4:c.648_650dup MANE Select | ENSP00000226382.2:p.Gly217_Pro218insGly |
| NM_003924.3:c.648_650dup , LRG_513t1:c.648_650dup | NP_003915.2:p.Gly217_Pro218insGly |
| ENST00000226382.3:c.648_650dup | ENSP00000226382.2:p.Gly217_Pro218insGly |
| ENST00000510424.2:n.469_471dup |