Linked Data
ClinVar Variation Id:
424175
dbSNP Id:
rs761634625
ExAC:
3:25778847 AGCT / A
gnomAD v2:
3-25778847-AGCT-A
gnomAD v3:
3-25737356-AGCT-A
gnomAD v4:
3-25737356-AGCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25737357_25737359del , CM000665.2:g.25737357_25737359del | GRCh38 |
| NC_000003.11:g.25778848_25778850del , CM000665.1:g.25778848_25778850del | GRCh37 |
| NC_000003.10:g.25753852_25753854del | NCBI36 |
| NG_034108.1:g.57681_57683del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280700.10:c.978_980del MANE Select | ENSP00000280700.5:p.Glu326_Ala327delinsAsp | |
| ENST00000463611.2:c.*1069_*1071del | ENSP00000501918.1:n.*1069_*1071del | |
| ENST00000674841.1:n.1101_1103del | ||
| ENST00000675178.1:n.168-3377_168-3375del | ||
| ENST00000675217.1:c.*351_*353del | ENSP00000502195.1:n.*351_*353del | |
| ENST00000675234.1:c.*475_*477del | ENSP00000502740.1:n.*475_*477del | |
| ENST00000675680.1:c.391-959_391-957del | ||
| ENST00000676225.1:c.882-959_882-957del | ENSP00000501622.1:n.882-959_882-957del | |
| ENST00000280699.13:c.729_731del | ||
| ENST00000280700.9:c.978_980del | ENSP00000280700.5:p.Glu326_Ala327delinsAsp | |
| ENST00000308710.9:c.969_971del | ENSP00000307980.5:p.Glu323_Ala324delinsAsp | |
| ENST00000396649.7:c.978_980del | ENSP00000379886.3:p.Glu326_Ala327delinsAsp | |
| ENST00000417874.6:c.852_854del | ENSP00000389888.2:p.Glu284_Ala285delinsAsp | |
| ENST00000428257.5:c.978_980del | ENSP00000387430.1:p.Glu326_Ala327delinsAsp | |
| ENST00000493324.5:n.1002_1004del | ||
| NM_001145293.1:c.978_980del | NP_001138765.1:p.Glu326_Ala327delinsAsp | |
| NM_001145294.1:c.852_854del | NP_001138766.1:p.Glu284_Ala285delinsAsp | |
| NM_001145295.1:c.978_980del | NP_001138767.1:p.Glu326_Ala327delinsAsp | |
| NM_018297.3:c.978_980del | NP_060767.2:p.Glu326_Ala327delinsAsp | |
| XM_005265316.1:c.978_980del | XP_005265373.1:p.Glu326_Ala327delinsAsp | |
| XM_005265317.1:c.978_980del | XP_005265374.1:p.Glu326_Ala327delinsAsp | |
| XM_011533944.1:c.747_749del | XP_011532246.1:p.Glu249_Ala250delinsAsp | |
| XM_011533945.1:c.978_980del | XP_011532247.1:p.Glu326_Ala327delinsAsp | |
| XR_940470.1:n.1031_1033del | ||
| XR_940471.1:n.1031_1033del | ||
| XM_017006839.2:c.978_980del | XP_016862328.1:p.Glu326_Ala327delinsAsp | |
| XR_001740200.2:n.1031_1033del | ||
| XR_002959548.1:n.1031_1033del | ||
| XR_940471.2:n.1031_1033del | ||
| NM_018297.4:c.978_980del MANE Select | NP_060767.2:p.Glu326_Ala327delinsAsp | |
| NM_001145293.2:c.978_980del | NP_001138765.1:p.Glu326_Ala327delinsAsp | |
| NM_001145294.2:c.852_854del | NP_001138766.1:p.Glu284_Ala285delinsAsp | |
| NM_001145295.2:c.978_980del | NP_001138767.1:p.Glu326_Ala327delinsAsp |