Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624320dup , CM000679.2:g.41624320dup | GRCh38 |
| NC_000017.10:g.39780572dup , CM000679.1:g.39780572dup | GRCh37 |
| NC_000017.9:g.37034098dup | NCBI36 |
| NG_008625.1:g.5312dup | |
| NG_009090.2:g.167394dup , LRG_401:g.167394dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.191dup MANE Select | ENSP00000308452.8:p.Ser65LeufsTer13 | |
| ENST00000311208.12:c.191dup | ENSP00000308452.8:p.Ser65LeufsTer13 | |
| ENST00000463128.5:c.-312-113dup | ENSP00000468672.1:n.-312-113dup | |
| ENST00000491673.1:n.257dup | ||
| ENST00000540235.5:c.-15dup | ENSP00000441751.2:n.-15dup | |
| ENST00000577817.3:c.146dup | ENSP00000467418.1:p.Ser50LeufsTer13 | |
| NM_000422.2:c.191dup | NP_000413.1:p.Ser65LeufsTer13 | |
| NM_000422.3:c.191dup MANE Select | NP_000413.1:p.Ser65LeufsTer13 |