Linked Data
ClinVar Variation Id:
161711
ClinVar RCV Id:
RCV000149247
dbSNP Id:
rs193920861
COSMIC:
COSM1179920
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.94824928del , CM000670.2:g.94824928del | GRCh38 |
| NC_000008.10:g.95837156del , CM000670.1:g.95837156del | GRCh37 |
| NC_000008.9:g.95906332del | NCBI36 |
| NG_047163.1:g.16618del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523731.6:c.166del MANE Select | ENSP00000430338.1:p.Glu56AsnfsTer26 | |
| ENST00000343161.8:c.166del | ENSP00000343274.4:p.Glu56AsnfsTer26 | |
| ENST00000519053.5:c.-23+1367del | ENSP00000429056.1:n.-23+1367del | |
| ENST00000519457.5:c.166del | ENSP00000428260.1:p.Glu56AsnfsTer26 | |
| ENST00000521860.5:c.128del | ||
| ENST00000522171.5:c.43del | ENSP00000429340.1:p.Glu15AsnfsTer26 | |
| ENST00000523206.5:c.166del | ENSP00000429452.1:p.Glu56AsnfsTer26 | |
| ENST00000523321.5:n.291del | ||
| ENST00000523731.5:c.166del | ENSP00000430338.1:p.Glu56AsnfsTer26 | |
| ENST00000523808.5:c.358del | ENSP00000430033.1:p.Glu120AsnfsTer26 | |
| ENST00000524333.5:c.166del | ENSP00000427840.1:p.Glu56AsnfsTer26 | |
| NM_017864.3:c.166del | NP_060334.2:p.Glu56AsnfsTer26 | |
| NR_073444.1:n.308del | ||
| NR_073445.1:n.308del | ||
| XM_006716602.2:c.166del | XP_006716665.1:p.Glu56AsnfsTer26 | |
| XM_006716603.2:c.-23+1367del | XP_006716666.1:n.-23+1367del | |
| XM_011517155.1:c.43del | XP_011515457.1:p.Glu15AsnfsTer26 | |
| XM_011517156.1:c.166del | XP_011515458.1:p.Glu56AsnfsTer26 | |
| XM_011517157.1:c.-162del | XP_011515459.1:n.-162del | |
| XM_017013616.1:c.166del | XP_016869105.1:p.Glu56AsnfsTer26 | |
| XM_017013617.1:c.166del | XP_016869106.1:p.Glu56AsnfsTer26 | |
| XM_017013618.1:c.-23+1367del | XP_016869107.1:n.-23+1367del | |
| XM_017013619.1:c.-1118del | XP_016869108.1:n.-1118del | |
| NM_017864.4:c.166del MANE Select | NP_060334.2:p.Glu56AsnfsTer26 | |
| NR_073444.2:n.311del | ||
| NR_073445.2:n.311del |