Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301748dup , CM000668.2:g.24301748dup | GRCh38 |
| NC_000006.11:g.24301976dup , CM000668.1:g.24301976dup | GRCh37 |
| NC_000006.10:g.24409955dup | NCBI36 |
| NG_012829.1:g.61310dup | |
| NG_012829.2:g.86550dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016356.5:c.529dup MANE Select | NP_057440.2:p.Ile177AsnfsTer20 |
| ENST00000378454.8:c.529dup MANE Select | ENSP00000367715.3:p.Ile177AsnfsTer20 |
| NM_001195610.1:c.529dup | NP_001182539.1:p.Ile177AsnfsTer20 |
| NM_001195610.2:c.529dup | NP_001182539.1:p.Ile177AsnfsTer20 |
| NM_016356.4:c.529dup | NP_057440.2:p.Ile177AsnfsTer20 |
| ENST00000378454.7:c.529dup | ENSP00000367715.3:p.Ile177AsnfsTer20 |