Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114680_140114694dup , CM000667.2:g.140114680_140114694dup | GRCh38 |
| NC_000005.9:g.139494265_139494279dup , CM000667.1:g.139494265_139494279dup | GRCh37 |
| NC_000005.8:g.139474449_139474463dup | NCBI36 |
| NG_041813.1:g.5558_5572dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.499_513dup MANE Select | ENSP00000332706.3:p.Arg171_Gln172insPheLeuArgIleArg | |
| ENST00000651386.1:c.499_513dup | ENSP00000499133.1:p.Arg171_Gln172insPheLeuArgIleArg | |
| ENST00000331327.4:c.499_513dup | ENSP00000332706.3:p.Arg171_Gln172insPheLeuArgIleArg | |
| NM_005859.4:c.499_513dup | NP_005850.1:p.Arg171_Gln172insPheLeuArgIleArg | |
| NM_005859.5:c.499_513dup MANE Select | NP_005850.1:p.Arg171_Gln172insPheLeuArgIleArg |