Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114568dup , CM000667.2:g.140114568dup | GRCh38 |
| NC_000005.9:g.139494153dup , CM000667.1:g.139494153dup | GRCh37 |
| NC_000005.8:g.139474337dup | NCBI36 |
| NG_041813.1:g.5446dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005859.5:c.387dup MANE Select | NP_005850.1:p.Pro130AlafsTer? |
| ENST00000331327.5:c.387dup MANE Select | ENSP00000332706.3:p.Pro130AlafsTer? |
| NM_005859.4:c.387dup | NP_005850.1:p.Pro130AlafsTer? |
| ENST00000331327.4:c.387dup | ENSP00000332706.3:p.Pro130AlafsTer? |
| ENST00000651386.1:c.387dup | ENSP00000499133.1:p.Pro130AlafsTer? |