Linked Data
ClinVar Variation Id:
1440864
ClinVar RCV Id:
RCV001950504
dbSNP Id:
rs750963703
ExAC:
7:120428651 ACTC / A
gnomAD v2:
7-120428651-ACTC-A
gnomAD v3:
7-120788597-ACTC-A
gnomAD v4:
7-120788597-ACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788602_120788604del , CM000669.2:g.120788602_120788604del | GRCh38 |
| NC_000007.13:g.120428656_120428658del , CM000669.1:g.120428656_120428658del | GRCh37 |
| NC_000007.12:g.120215892_120215894del | NCBI36 |
| NG_023203.1:g.74524_74526del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222747.8:c.910_912del MANE Select | ENSP00000222747.3:p.Glu304del | |
| ENST00000222747.7:c.910_912del | ENSP00000222747.3:p.Glu304del | |
| ENST00000415871.5:c.910_912del | ENSP00000397699.1:p.Glu304del | |
| ENST00000450414.5:c.889_891del | ENSP00000397411.1:n.889_891del | |
| NM_012338.3:c.910_912del | NP_036470.1:p.Glu304del | |
| XM_005250239.1:c.910_912del | XP_005250296.1:p.Glu304del | |
| XM_011515993.1:c.910_912del | XP_011514295.1:p.Glu304del | |
| XM_011515994.1:c.910_912del | XP_011514296.1:p.Glu304del | |
| XM_005250239.3:c.910_912del | XP_005250296.1:p.Glu304del | |
| XM_017011913.1:c.835_837del | XP_016867402.1:p.Glu279del | |
| NM_012338.4:c.910_912del MANE Select | NP_036470.1:p.Glu304del |