Linked Data
dbSNP Id:
rs868444629
MyVariant Identifiers:
chr7:g.83021872del (hg19)
chr7:g.83392557del (hg38)
chr7:g.83392556del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83392560del , CM000669.2:g.83392560del | GRCh38 |
| NC_000007.13:g.83021876del , CM000669.1:g.83021876del | GRCh37 |
| NC_000007.12:g.82859812del | NCBI36 |
| NG_021242.1:g.261608del | |
| NG_021242.2:g.261608del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.1486del | ENSP00000405052.1:p.Arg496GlyfsTer? | |
| ENST00000642232.1:c.1666del | ENSP00000494064.1:p.Arg556GlyfsTer? | |
| ENST00000643230.2:c.1666del MANE Select | ENSP00000496491.1:p.Arg556GlyfsTer? | |
| ENST00000643441.1:n.1651del | ||
| ENST00000307792.7:c.1666del | ENSP00000303212.3:p.Arg556GlyfsTer? | |
| ENST00000427262.5:c.1486del | ENSP00000405052.1:p.Arg496GlyfsTer? | |
| NM_001178129.1:c.1486del | NP_001171600.1:p.Arg496GlyfsTer? | |
| NM_012431.2:c.1666del | NP_036563.1:p.Arg556GlyfsTer? | |
| XM_011516715.1:c.1666del | XP_011515017.1:p.Arg556GlyfsTer? | |
| NM_012431.3:c.1666del MANE Select | NP_036563.1:p.Arg556GlyfsTer? | |
| NM_001178129.2:c.1486del | NP_001171600.1:p.Arg496GlyfsTer? |