Linked Data
dbSNP Id:
rs2148787631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154191667del , CM000685.2:g.154191667del | GRCh38 |
| NC_000023.10:g.153457158del , CM000685.1:g.153457158del | GRCh37 |
| NG_011606.1:g.14074del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000595290.6:c.579-21del MANE Select | ENSP00000472316.1:n.579-21del | |
| ENST00000595290.5:c.579-21del | ENSP00000472316.1:n.579-21del | |
| ENST00000595330.1:n.588+1445del | ||
| ENST00000596998.2:c.166-21del | ||
| NM_000513.2:c.579-21del MANE Select | NP_000504.1:n.579-21del |