Linked Data
dbSNP Id:
rs1789697391
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220608_32220609del , CM000668.2:g.32220608_32220609del | GRCh38 |
| NC_000006.11:g.32188385_32188386del , CM000668.1:g.32188385_32188386del | GRCh37 |
| NC_000006.10:g.32296363_32296364del | NCBI36 |
| NG_028190.1:g.8461_8462del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.957_958del MANE Select | ENSP00000364163.3:p.Glu319AspfsTer19 | |
| ENST00000473562.1:n.1086_1087del | ||
| NM_004557.3:c.957_958del | NP_004548.3:p.Glu319AspfsTer19 | |
| NR_134949.1:n.1096_1097del | ||
| NR_134950.1:n.1096_1097del | ||
| NM_004557.4:c.957_958del MANE Select | NP_004548.3:p.Glu319AspfsTer19 | |
| NR_134949.2:n.1096_1097del | ||
| NR_134950.2:n.1096_1097del |