Linked Data
dbSNP Id:
rs1555575113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624294dup , CM000679.2:g.41624294dup | GRCh38 |
| NC_000017.10:g.39780546dup , CM000679.1:g.39780546dup | GRCh37 |
| NC_000017.9:g.37034072dup | NCBI36 |
| NG_008625.1:g.5337dup | |
| NG_009090.2:g.167419dup , LRG_401:g.167419dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.216dup MANE Select | ENSP00000308452.8:p.Phe73LeufsTer5 | |
| ENST00000311208.12:c.216dup | ENSP00000308452.8:p.Phe73LeufsTer5 | |
| ENST00000463128.5:c.-312-88dup | ENSP00000468672.1:n.-312-88dup | |
| ENST00000491673.1:n.282dup | ||
| ENST00000493253.5:n.3dup | ||
| ENST00000540235.5:c.11dup | ENSP00000441751.2:p.Leu5PhefsTer24 | |
| ENST00000577817.3:c.171dup | ENSP00000467418.1:p.Phe58LeufsTer5 | |
| NM_000422.2:c.216dup | NP_000413.1:p.Phe73LeufsTer5 | |
| NM_000422.3:c.216dup MANE Select | NP_000413.1:p.Phe73LeufsTer5 |