Linked Data
dbSNP Id:
rs1253932930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76968583_76968586del , CM000667.2:g.76968583_76968586del | GRCh38 |
| NC_000005.9:g.76264408_76264411del , CM000667.1:g.76264408_76264411del | GRCh37 |
| NC_000005.8:g.76300164_76300167del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274368.9:c.812-145_812-142del MANE Select | ENSP00000274368.4:n.812-145_812-142del | |
| ENST00000274368.8:c.812-145_812-142del | ENSP00000274368.4:n.812-145_812-142del | |
| ENST00000503763.1:n.227-145_227-142del | ||
| ENST00000514258.1:n.311+5123_311+5126del | ||
| NM_001882.3:c.812-145_812-142del | NP_001873.2:n.812-145_812-142del | |
| XR_948235.1:n.1111+5123_1111+5126del | ||
| XR_948235.3:n.1091+5123_1091+5126del | ||
| NM_001882.4:c.812-145_812-142del MANE Select | NP_001873.2:n.812-145_812-142del |