Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169742_110169743delinsAA , CM000675.2:g.110169742_110169743delinsAA | GRCh38 |
| NC_000013.10:g.110822089_110822090delinsAA , CM000675.1:g.110822089_110822090delinsAA | GRCh37 |
| NC_000013.9:g.109620090_109620091delinsAA | NCBI36 |
| NG_011544.2:g.142407_142408delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3762_3763delinsTT MANE Select | ENSP00000364979.4:p.Pro1255Ser | |
| ENST00000375820.8:c.3762_3763delinsTT | ENSP00000364979.4:p.Pro1255Ser | |
| NM_001845.5:c.3762_3763delinsTT | NP_001836.3:p.Pro1255Ser | |
| XM_011521048.1:c.3570_3571delinsTT | XP_011519350.1:p.Pro1191Ser | |
| XM_011521048.2:c.3570_3571delinsTT | XP_011519350.1:p.Pro1191Ser | |
| NM_001845.6:c.3762_3763delinsTT MANE Select | NP_001836.3:p.Pro1255Ser |