Linked Data
ClinVar Variation Id:
162665
dbSNP Id:
rs727502871
ExAC:
3:148727064 TG / T
gnomAD v2:
3-148727064-TG-T
gnomAD v3:
3-149009277-TG-T
gnomAD v4:
3-149009277-TG-T
MyVariant Identifiers:
chr3:g.148727068del (hg19)
chr3:g.148727065del (hg19)
chr3:g.149009281del (hg38)
chr3:g.149009279del (hg38)
chr3:g.149009278del (hg38)
PubMed:
PMID:25272951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149009281del , CM000665.2:g.149009281del | GRCh38 |
| NC_000003.11:g.148727068del , CM000665.1:g.148727068del | GRCh37 |
| NC_000003.10:g.150209758del | NCBI36 |
| NG_027677.1:g.22874del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345003.9:c.487del MANE Select | ENSP00000340736.4:p.Asp163ThrfsTer5 | |
| ENST00000296048.10:c.487del | ENSP00000296048.6:p.Asp163ThrfsTer5 | |
| ENST00000345003.8:c.487del | ENSP00000340736.4:p.Asp163ThrfsTer5 | |
| ENST00000461191.1:c.475del | ENSP00000420247.1:p.Asp159ThrfsTer5 | |
| ENST00000469873.1:n.401del | ||
| ENST00000479119.1:n.103del | ||
| ENST00000483267.5:c.469+12389del | ENSP00000419499.1:n.469+12389del | |
| ENST00000484197.5:c.487del | ENSP00000420683.1:p.Asp163ThrfsTer5 | |
| ENST00000497528.5:n.126del | ||
| ENST00000627418.2:c.469+12389del | ENSP00000486061.1:n.469+12389del | |
| NM_001184720.1:c.487del | NP_001171649.1:p.Asp163ThrfsTer5 | |
| NM_001184721.1:c.487del | NP_001171650.1:p.Asp163ThrfsTer5 | |
| NM_004130.3:c.487del | NP_004121.2:p.Asp163ThrfsTer5 | |
| XM_017006275.1:c.310del | XP_016861764.1:p.Asp104ThrfsTer5 | |
| XM_017006276.1:c.25del | XP_016861765.1:p.Asp9ThrfsTer5 | |
| NM_004130.4:c.487del MANE Select | NP_004121.2:p.Asp163ThrfsTer5 | |
| NM_001184720.2:c.487del | NP_001171649.1:p.Asp163ThrfsTer5 | |
| NM_001184721.2:c.487del | NP_001171650.1:p.Asp163ThrfsTer5 |