Linked Data
dbSNP Id:
rs1745658089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233351_55233358dup , CM000667.2:g.55233351_55233358dup | GRCh38 |
| NC_000005.9:g.54529179_54529186dup , CM000667.1:g.54529179_54529186dup | GRCh37 |
| NC_000005.8:g.54564936_54564943dup | NCBI36 |
| NG_034201.1:g.5360_5367dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.166_173dup MANE Select | ENSP00000282572.4:p.Cys58TrpfsTer? | |
| ENST00000282572.4:c.166_173dup | ENSP00000282572.4:p.Cys58TrpfsTer? | |
| ENST00000501463.2:c.166_173dup | ENSP00000422485.1:p.Cys58TrpfsTer? | |
| NM_021147.4:c.166_173dup | NP_066970.3:p.Cys58TrpfsTer? | |
| NR_125346.1:n.360_367dup | ||
| NR_125347.1:n.360_367dup | ||
| NM_021147.5:c.166_173dup MANE Select | NP_066970.3:p.Cys58TrpfsTer? | |
| NR_125346.2:n.251_258dup | ||
| NR_125347.2:n.251_258dup |