Linked Data
ClinVar Variation Id:
48145
dbSNP Id:
rs397517932
ExAC:
3:150659496 AATGAC / A
gnomAD v2:
3-150659496-AATGAC-A
gnomAD v4:
3-150941709-AATGAC-A
PubMed:
PMID:21675857
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150941712_150941716del , CM000665.2:g.150941712_150941716del | GRCh38 |
| NC_000003.11:g.150659499_150659503del , CM000665.1:g.150659499_150659503del | GRCh37 |
| NC_000003.10:g.152142189_152142193del | NCBI36 |
| NG_009168.1:g.36286_36290del , LRG_700:g.36286_36290del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327047.6:c.301_305del MANE Select | ENSP00000322280.1:p.Val101SerfsTer27 | |
| ENST00000468836.2:c.449_453del | ENSP00000419892.2:p.Cys150PhefsTer10 | |
| ENST00000644099.1:c.293_297del | ENSP00000494762.1:n.293_297del | |
| ENST00000295911.6:c.73_77del | ENSP00000295911.2:p.Val25SerfsTer27 | |
| ENST00000327047.5:c.301_305del | ENSP00000322280.1:p.Val101SerfsTer27 | |
| ENST00000328863.8:c.301_305del | ENSP00000329158.4:p.Val101SerfsTer27 | |
| ENST00000468836.1:c.73_77del | ENSP00000419892.1:p.Val25SerfsTer27 | |
| ENST00000472224.1:n.307_311del | ||
| ENST00000485607.1:c.-36_-32del | ENSP00000419244.1:n.-36_-32del | |
| ENST00000565169.1:c.30_34del | ||
| ENST00000569170.5:c.30_34del | ||
| NM_001195794.1:c.301_305del , LRG_700t1:c.301_305del | NP_001182723.1:p.Val101SerfsTer27 | |
| NM_001256819.1:c.473_477del | NP_001243748.1:p.Cys158PhefsTer10 | |
| NM_052995.2:c.73_77del , LRG_700t2:c.73_77del | NP_443721.1:p.Val25SerfsTer27 | |
| NM_174878.2:c.301_305del | NP_777367.1:p.Val101SerfsTer27 | |
| NR_046380.2:n.743_747del | ||
| XR_924167.1:n.613_617del | ||
| NM_001256819.2:c.473_477del | NP_001243748.1:p.Cys158PhefsTer10 | |
| NM_174878.3:c.301_305del MANE Select | NP_777367.1:p.Val101SerfsTer27 | |
| NR_046380.3:n.471_475del |