Linked Data
dbSNP Id:
rs1683509800
gnomAD v3:
2-169487682-TTATTTC-T
gnomAD v4:
2-169487682-TTATTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169487686_169487691del , CM000664.2:g.169487686_169487691del | GRCh38 |
| NC_000002.11:g.170344196_170344201del , CM000664.1:g.170344196_170344201del | GRCh37 |
| NC_000002.10:g.170052442_170052447del | NCBI36 |
| NG_011567.1:g.13191_13196del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295240.8:c.209-120_209-115del MANE Select | ENSP00000295240.3:n.209-120_209-115del | |
| ENST00000295240.7:c.209-120_209-115del | ENSP00000295240.3:n.209-120_209-115del | |
| ENST00000392663.6:c.209-120_209-115del | ENSP00000376431.2:n.209-120_209-115del | |
| ENST00000443151.1:c.143-301_143-296del | ENSP00000406182.1:n.143-301_143-296del | |
| ENST00000513963.1:c.209-120_209-115del | ENSP00000424363.1:n.209-120_209-115del | |
| NM_152384.2:c.209-120_209-115del | NP_689597.1:n.209-120_209-115del | |
| NM_152384.3:c.209-120_209-115del MANE Select | NP_689597.1:n.209-120_209-115del |