Linked Data
dbSNP Id:
rs1745896803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76968543_76968546del , CM000667.2:g.76968543_76968546del | GRCh38 |
| NC_000005.9:g.76264368_76264371del , CM000667.1:g.76264368_76264371del | GRCh37 |
| NC_000005.8:g.76300124_76300127del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274368.9:c.812-185_812-182del MANE Select | ENSP00000274368.4:n.812-185_812-182del | |
| ENST00000274368.8:c.812-185_812-182del | ENSP00000274368.4:n.812-185_812-182del | |
| ENST00000503763.1:n.227-185_227-182del | ||
| ENST00000514258.1:n.311+5083_311+5086del | ||
| NM_001882.3:c.812-185_812-182del | NP_001873.2:n.812-185_812-182del | |
| XR_948235.1:n.1111+5083_1111+5086del | ||
| XR_948235.3:n.1091+5083_1091+5086del | ||
| NM_001882.4:c.812-185_812-182del MANE Select | NP_001873.2:n.812-185_812-182del |