Linked Data
dbSNP Id:
rs1589584700
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044353del , CM000672.2:g.114044353del | GRCh38 |
| NC_000010.10:g.115804112del , CM000672.1:g.115804112del | GRCh37 |
| NC_000010.9:g.115794102del | NCBI36 |
| NG_012187.1:g.5307del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.221del MANE Select | ENSP00000358301.2:p.Ala74GlyfsTer6 | |
| ENST00000369295.3:c.221del | ENSP00000358301.2:p.Ala74GlyfsTer6 | |
| NM_000684.2:c.221del | NP_000675.1:p.Ala74GlyfsTer6 | |
| NM_000684.3:c.221del MANE Select | NP_000675.1:p.Ala74GlyfsTer6 |