Linked Data
dbSNP Id:
rs978533427
gnomAD v2:
17-73760966-ACT-A
gnomAD v3:
17-75764885-ACT-A
gnomAD v4:
17-75764885-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75764887_75764888del , CM000679.2:g.75764887_75764888del | GRCh38 |
| NC_000017.10:g.73760968_73760969del , CM000679.1:g.73760968_73760969del | GRCh37 |
| NC_000017.9:g.71272563_71272564del | NCBI36 |
| NG_008079.1:g.5313_5314del | |
| NG_008079.2:g.5313_5314del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587707.2:c.165+85_165+86del | ENSP00000468341.2:n.165+85_165+86del | |
| ENST00000592997.6:c.165+85_165+86del | ENSP00000464765.2:n.165+85_165+86del | |
| ENST00000588479.6:c.165+85_165+86del MANE Select | ENSP00000465930.1:n.165+85_165+86del | |
| ENST00000225614.6:c.165+85_165+86del | ENSP00000225614.1:n.165+85_165+86del | |
| ENST00000586244.1:c.165+85_165+86del | ENSP00000468288.1:n.165+85_165+86del | |
| ENST00000588479.5:c.165+85_165+86del | ENSP00000465930.1:n.165+85_165+86del | |
| ENST00000589030.1:n.162+85_162+86del | ||
| ENST00000592494.1:n.186+85_186+86del | ||
| NM_000154.1:c.165+85_165+86del | NP_000145.1:n.165+85_165+86del | |
| NM_000154.2:c.165+85_165+86del MANE Select | NP_000145.1:n.165+85_165+86del | |
| NM_001381985.1:c.165+85_165+86del | NP_001368914.1:n.165+85_165+86del |