Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780503_94780506dup , CM000672.2:g.94780503_94780506dup | GRCh38 |
| NC_000010.10:g.96540260_96540263dup , CM000672.1:g.96540260_96540263dup | GRCh37 |
| NC_000010.9:g.96530250_96530253dup | NCBI36 |
| NG_008384.2:g.22798_22801dup | |
| NG_008384.3:g.22823_22826dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.486_489dup MANE Select | ENSP00000360372.3:p.Cys164ThrfsTer3 | |
| ENST00000645461.1:n.1539_1542dup | ||
| ENST00000371321.7:c.486_489dup | ENSP00000360372.3:p.Cys164ThrfsTer3 | |
| ENST00000464755.1:c.1249_1252dup | ENSP00000483243.1:n.1249_1252dup | |
| NM_000769.2:c.486_489dup | NP_000760.1:p.Cys164ThrfsTer3 | |
| NM_000769.4:c.486_489dup MANE Select | NP_000760.1:p.Cys164ThrfsTer3 |