Linked Data
ClinVar Variation Id:
167564
ClinVar RCV Id:
RCV002345489
dbSNP Id:
rs727504120
gnomAD v4:
13-48303957-TGCCGCCGCGGAACCCCCGGCACCGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303966_48303991del , CM000675.2:g.48303966_48303991del | GRCh38 |
| NC_000013.10:g.48878102_48878127del , CM000675.1:g.48878102_48878127del | GRCh37 |
| NC_000013.9:g.47776103_47776128del | NCBI36 |
| NG_009009.1:g.5220_5245del , LRG_517:g.5220_5245del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.54_79del MANE Select | ENSP00000267163.4:p.Glu19ProfsTer3 | |
| ENST00000646097.1:c.54_79del | ENSP00000496556.1:p.Glu19ProfsTer3 | |
| ENST00000650461.1:c.54_79del | ENSP00000497193.1:p.Glu19ProfsTer3 | |
| ENST00000267163.4:c.54_79del | ENSP00000267163.4:p.Glu19ProfsTer3 | |
| ENST00000467505.5:c.54_79del | ENSP00000434702.1:p.Glu19ProfsTer3 | |
| ENST00000525036.1:n.216_241del | ||
| NM_000321.2:c.54_79del , LRG_517t1:c.54_79del | NP_000312.2:p.Glu19ProfsTer3 | |
| NM_000321.3:c.54_79del MANE Select | NP_000312.2:p.Glu19ProfsTer3 |