Linked Data
dbSNP Id:
rs281860578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270041_31270086del , CM000668.2:g.31270041_31270086del | GRCh38 |
| NC_000006.11:g.31237818_31237863del , CM000668.1:g.31237818_31237863del | GRCh37 |
| NC_000006.10:g.31345797_31345842del | NCBI36 |
| NG_029422.2:g.7047_7092del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.896_941del | ||
| ENST00000376228.9:c.896_941del | ||
| ENST00000376237.8:c.*483_*528del | ||
| ENST00000383329.7:c.896_941del | ||
| ENST00000470363.5:n.214_259del | ||
| ENST00000487245.5:n.1255_1300del | ||
| NM_002117.5:c.896_941del | ||
| NM_002117.6:c.896_941del |