Linked Data
ClinVar Variation Id:
437962
dbSNP Id:
rs1171910750
gnomAD v2:
7-120478888-AATG-A
gnomAD v4:
7-120838834-AATG-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120838837_120838839del , CM000669.2:g.120838837_120838839del | GRCh38 |
| NC_000007.13:g.120478891_120478893del , CM000669.1:g.120478891_120478893del | GRCh37 |
| NC_000007.12:g.120266127_120266129del | NCBI36 |
| NG_023203.1:g.24287_24289del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222747.8:c.225_227del MANE Select | ENSP00000222747.3:p.Ile76del | |
| ENST00000222747.7:c.225_227del | ENSP00000222747.3:p.Ile76del | |
| ENST00000415871.5:c.225_227del | ENSP00000397699.1:p.Ile76del | |
| ENST00000424710.5:c.225_227del | ENSP00000404942.1:p.Ile76del | |
| ENST00000430985.1:c.225_227del | ENSP00000388819.1:p.Ile76del | |
| ENST00000433758.5:c.225_227del | ENSP00000399059.1:p.Ile76del | |
| ENST00000441017.5:c.225_227del | ENSP00000411158.1:p.Ile76del | |
| NM_012338.3:c.225_227del | NP_036470.1:p.Ile76del | |
| XM_005250239.1:c.225_227del | XP_005250296.1:p.Ile76del | |
| XM_011515993.1:c.225_227del | XP_011514295.1:p.Ile76del | |
| XM_011515994.1:c.225_227del | XP_011514296.1:p.Ile76del | |
| XM_005250239.3:c.225_227del | XP_005250296.1:p.Ile76del | |
| XM_017011913.1:c.225_227del | XP_016867402.1:p.Ile76del | |
| NM_012338.4:c.225_227del MANE Select | NP_036470.1:p.Ile76del |