Linked Data
dbSNP Id:
rs1639661542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23868031_23868033del , CM000663.2:g.23868031_23868033del | GRCh38 |
| NC_000001.10:g.24194521_24194523del , CM000663.1:g.24194521_24194523del | GRCh37 |
| NC_000001.9:g.24067108_24067110del | NCBI36 |
| NG_013346.1:g.5340_5342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.257_259del MANE Select | ENSP00000363603.3:p.Arg86del | |
| ENST00000374479.3:c.257_259del | ENSP00000363603.3:p.Arg86del | |
| NM_000147.4:c.257_259del | NP_000138.2:p.Arg86del | |
| XM_005245821.1:c.-293_-291del | XP_005245878.1:n.-293_-291del | |
| XM_005245821.3:c.-293_-291del | XP_005245878.1:n.-293_-291del | |
| NM_000147.5:c.257_259del MANE Select | NP_000138.2:p.Arg86del | |
| NR_174379.1:n.261_263del | ||
| NR_174380.1:n.261_263del | ||
| NR_174381.1:n.261_263del | ||
| NR_174382.1:n.261_263del |