Linked Data
ClinVar Variation Id:
554860
ClinVar RCV Id:
RCV000670563
dbSNP Id:
rs781255433
ExAC:
14:74947423 CCAG / C
gnomAD v2:
14-74947423-CCAG-C
gnomAD v3:
14-74480720-CCAG-C
gnomAD v4:
14-74480720-CCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74480724_74480726del , CM000676.2:g.74480724_74480726del | GRCh38 |
| NC_000014.8:g.74947427_74947429del , CM000676.1:g.74947427_74947429del | GRCh37 |
| NC_000014.7:g.74017180_74017182del | NCBI36 |
| NG_007117.1:g.17659_17661del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.420_422del MANE Select | ENSP00000451112.2:p.Cys140del | |
| ENST00000238633.6:c.420_422del | ENSP00000238633.2:p.Cys140del | |
| ENST00000434013.6:c.420_422del | ENSP00000412103.2:p.Cys140del | |
| ENST00000541064.5:c.364-435_364-433del | ENSP00000442488.1:n.364-435_364-433del | |
| ENST00000553490.5:c.420_422del | ENSP00000451180.1:p.Cys140del | |
| ENST00000554482.1:c.215_217del | ENSP00000451314.1:n.215_217del | |
| ENST00000555619.5:c.420_422del | ENSP00000451112.1:p.Cys140del | |
| ENST00000556009.5:c.485_487del | ||
| ENST00000557510.5:c.420_422del | ENSP00000451206.1:p.Cys140del | |
| NM_006432.3:c.420_422del | NP_006423.1:p.Cys140del | |
| NM_001363688.1:c.420_422del | NP_001350617.1:p.Cys140del | |
| NM_006432.4:c.420_422del | NP_006423.1:p.Cys140del | |
| NM_001375440.1:c.364-435_364-433del | NP_001362369.1:n.364-435_364-433del | |
| NM_006432.5:c.420_422del MANE Select | NP_006423.1:p.Cys140del |