Linked Data
dbSNP Id:
rs1638542432
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232597_1232611del , CM000663.2:g.1232597_1232611del | GRCh38 |
| NC_000001.10:g.1167977_1167991del , CM000663.1:g.1167977_1167991del | GRCh37 |
| NC_000001.9:g.1157840_1157854del | NCBI36 |
| NG_030007.1:g.4464_4478del | |
| NG_033265.1:g.5349_5363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.319_333del MANE Select | ENSP00000368496.2:p.Arg107_Arg111del | |
| ENST00000379198.3:c.319_333del | ENSP00000368496.2:p.Arg107_Arg111del | |
| NM_080605.3:c.319_333del | NP_542172.2:p.Arg107_Arg111del | |
| NM_080605.4:c.319_333del MANE Select | NP_542172.2:p.Arg107_Arg111del |