Linked Data
ClinVar Variation Id:
916471
ClinVar RCV Id:
RCV001172155
dbSNP Id:
rs773937499
ExAC:
3:142281263 GAC / G
gnomAD v2:
3-142281263-GAC-G
gnomAD v4:
3-142562421-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142562425_142562426del , CM000665.2:g.142562425_142562426del | GRCh38 |
| NC_000003.11:g.142281267_142281268del , CM000665.1:g.142281267_142281268del | GRCh37 |
| NC_000003.10:g.143763957_143763958del | NCBI36 |
| NG_008951.1:g.21404_21405del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.979_980del MANE Select | ENSP00000343741.4:p.Val327HisfsTer3 | |
| ENST00000515149.3:c.293-1002_293-1001del | ENSP00000425897.3:n.293-1002_293-1001del | |
| ENST00000653868.1:n.1008_1009del | ||
| ENST00000657914.1:n.3337_3338del | ||
| ENST00000659195.1:n.3044_3045del | ||
| ENST00000661310.1:c.979_980del | ENSP00000499589.1:p.Val327HisfsTer3 | |
| ENST00000350721.8:c.979_980del | ENSP00000343741.4:p.Val327HisfsTer3 | |
| ENST00000507148.1:c.293-75_293-74del | ENSP00000426595.1:n.293-75_293-74del | |
| ENST00000515149.2:c.22_23del | ENSP00000425897.2:p.Val8HisfsTer3 | |
| NM_001184.3:c.979_980del | NP_001175.2:p.Val327HisfsTer3 | |
| XM_011512924.1:c.979_980del | XP_011511226.1:p.Val327HisfsTer3 | |
| XM_011512925.1:c.979_980del | XP_011511227.1:p.Val327HisfsTer3 | |
| XM_011512926.1:c.979_980del | XP_011511228.1:p.Val327HisfsTer3 | |
| XM_011512927.1:c.979_980del | XP_011511229.1:p.Val327HisfsTer3 | |
| XR_924147.1:n.1068_1069del | ||
| XR_924148.1:n.1068_1069del | ||
| XR_924149.1:n.1068_1069del | ||
| NM_001354579.1:c.979_980del | NP_001341508.1:p.Val327HisfsTer3 | |
| XR_001740179.2:n.1068_1069del | ||
| XR_001740180.2:n.1068_1069del | ||
| XR_001740181.2:n.1068_1069del | ||
| XR_001740182.1:n.1068_1069del | ||
| XR_002959543.1:n.1068_1069del | ||
| XR_924148.2:n.1068_1069del | ||
| NM_001184.4:c.979_980del MANE Select | NP_001175.2:p.Val327HisfsTer3 | |
| NM_001354579.2:c.979_980del | NP_001341508.1:p.Val327HisfsTer3 |