Linked Data
dbSNP Id:
rs1486721607
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980453_149980455del , CM000667.2:g.149980453_149980455del | GRCh38 |
| NC_000005.9:g.149360016_149360018del , CM000667.1:g.149360016_149360018del | GRCh37 |
| NC_000005.8:g.149340209_149340211del | NCBI36 |
| NG_007147.2:g.21571_21573del , LRG_684:g.21571_21573del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.860_862del MANE Select | ENSP00000286298.4:p.Ile287del | |
| ENST00000286298.4:c.860_862del | ENSP00000286298.4:p.Ile287del | |
| ENST00000503336.1:c.372+2102_372+2104del | ENSP00000426053.1:n.372+2102_372+2104del | |
| NM_000112.3:c.860_862del , LRG_684t1:c.860_862del | NP_000103.2:p.Ile287del | |
| XM_017009191.2:c.860_862del | XP_016864680.1:p.Ile287del | |
| NM_000112.4:c.860_862del MANE Select | NP_000103.2:p.Ile287del |