Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123892_72123894dup , CM000679.2:g.72123892_72123894dup | GRCh38 |
| NC_000017.10:g.70120033_70120035dup , CM000679.1:g.70120033_70120035dup | GRCh37 |
| NC_000017.9:g.67631628_67631630dup | NCBI36 |
| NG_012490.1:g.7873_7875dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1035_1037dup MANE Select | ENSP00000245479.2:p.Pro346_Gln347insPro | |
| ENST00000245479.2:c.1035_1037dup | ENSP00000245479.2:p.Pro346_Gln347insPro | |
| NM_000346.3:c.1035_1037dup | NP_000337.1:p.Pro346_Gln347insPro | |
| NM_000346.4:c.1035_1037dup MANE Select | NP_000337.1:p.Pro346_Gln347insPro |