Linked Data
ClinVar Variation Id:
16067
dbSNP Id:
rs281864915
ExAC:
5:151239523 CG / C
gnomAD v2:
5-151239523-CG-C
gnomAD v3:
5-151859962-CG-C
gnomAD v4:
5-151859962-CG-C
PubMed:
PMID:11702206
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151859967del , CM000667.2:g.151859967del | GRCh38 |
| NC_000005.9:g.151239528del , CM000667.1:g.151239528del | GRCh37 |
| NC_000005.8:g.151219721del | NCBI36 |
| NG_011764.1:g.69874del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.298del MANE Select | ENSP00000274576.5:p.Arg100AlafsTer? | |
| ENST00000274576.8:c.298del | ENSP00000274576.4:p.Arg100AlafsTer? | |
| ENST00000455880.2:c.298del | ENSP00000411593.2:p.Arg100AlafsTer? | |
| ENST00000462581.6:c.*56del | ENSP00000430595.1:n.*56del | |
| ENST00000471351.2:n.581del | ||
| NM_000171.3:c.298del | NP_000162.2:p.Arg100AlafsTer? | |
| NM_001146040.1:c.298del | NP_001139512.1:p.Arg100AlafsTer? | |
| NM_001292000.1:c.49del | NP_001278929.1:p.Arg17AlafsTer? | |
| XM_005268412.2:c.298del | XP_005268469.1:p.Arg100AlafsTer? | |
| XR_002956230.1:n.229+2074del | ||
| NM_000171.4:c.298del MANE Select | NP_000162.2:p.Arg100AlafsTer? | |
| NM_001146040.2:c.298del | NP_001139512.1:p.Arg100AlafsTer? | |
| NM_001292000.2:c.49del | NP_001278929.1:p.Arg17AlafsTer? |