Linked Data
ClinVar Variation Id:
161469
ClinVar RCV Id:
RCV000149003
dbSNP Id:
rs193920779
COSMIC:
COSM1179183
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46726033del , CM000673.2:g.46726033del | GRCh38 |
| NC_000011.9:g.46747583del , CM000673.1:g.46747583del | GRCh37 |
| NC_000011.8:g.46704159del | NCBI36 |
| NG_008953.1:g.11841del , LRG_551:g.11841del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.734del MANE Select | ENSP00000308541.5:p.Leu245ArgfsTer? | |
| ENST00000311907.9:c.734del | ENSP00000308541.5:p.Leu245ArgfsTer? | |
| ENST00000442468.1:c.704del | ENSP00000387413.1:p.Leu235ArgfsTer? | |
| ENST00000490274.1:n.514del | ||
| ENST00000530231.5:c.734del | ENSP00000433907.1:p.Leu245ArgfsTer? | |
| NM_000506.3:c.734del | NP_000497.1:p.Leu245ArgfsTer? | |
| NM_000506.4:c.734del , LRG_551t1:c.734del | NP_000497.1:p.Leu245ArgfsTer? | |
| NM_001311257.1:c.686del | NP_001298186.1:p.Leu229ArgfsTer? | |
| XR_428840.2:n.778del | ||
| XR_428840.4:n.769del | ||
| NM_000506.5:c.734del MANE Select | NP_000497.1:p.Leu245ArgfsTer? | |
| NM_001311257.2:c.686del | NP_001298186.1:p.Leu229ArgfsTer? |