Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763649_57763652dup , CM000674.2:g.57763649_57763652dup | GRCh38 |
| NC_000012.11:g.58157432_58157435dup , CM000674.1:g.58157432_58157435dup | GRCh37 |
| NC_000012.10:g.56443699_56443702dup | NCBI36 |
| NG_007076.1:g.8542_8545dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1453_1456dup | ENSP00000518840.1:p.Arg486GlnfsTer7 | |
| ENST00000713545.1:c.*377_*380dup | ENSP00000518841.1:n.*377_*380dup | |
| ENST00000228606.9:c.1372_1375dup MANE Select | ENSP00000228606.4:p.Arg459GlnfsTer7 | |
| ENST00000228606.8:c.1372_1375dup | ENSP00000228606.4:p.Arg459GlnfsTer7 | |
| ENST00000547344.5:n.1511_1514dup | ||
| NM_000785.3:c.1372_1375dup | NP_000776.1:p.Arg459GlnfsTer7 | |
| NM_000785.4:c.1372_1375dup MANE Select | NP_000776.1:p.Arg459GlnfsTer7 |