Linked Data
ClinVar Variation Id:
789900
ClinVar RCV Id:
RCV000972604
dbSNP Id:
rs549579958
ExAC:
17:74383107 CG / C
gnomAD v2:
17-74383107-CG-C
gnomAD v3:
17-76387026-CG-C
gnomAD v4:
17-76387026-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76387027del , CM000679.2:g.76387027del | GRCh38 |
| NC_000017.10:g.74383108del , CM000679.1:g.74383108del | GRCh37 |
| NC_000017.9:g.71894703del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592299.6:c.596del MANE Select | ENSP00000465726.2:p.Arg199LeufsTer17 | |
| ENST00000323374.8:c.854del | ENSP00000313681.3:p.Arg285LeufsTer17 | |
| ENST00000392496.3:c.596del | ENSP00000376285.2:p.Arg199LeufsTer17 | |
| ENST00000545180.5:c.596del | ENSP00000440970.1:p.Arg199LeufsTer17 | |
| ENST00000590959.5:c.638del | ENSP00000468547.1:p.Arg213LeufsTer17 | |
| ENST00000591762.1:n.1673del | ||
| ENST00000592299.5:c.596del | ENSP00000465726.1:p.Arg199LeufsTer17 | |
| NM_001142601.1:c.596del | NP_001136073.1:p.Arg199LeufsTer17 | |
| NM_001142602.1:c.596del | NP_001136074.1:p.Arg199LeufsTer17 | |
| NM_021972.3:c.638del | NP_068807.2:p.Arg213LeufsTer17 | |
| NM_182965.2:c.854del | NP_892010.2:p.Arg285LeufsTer17 | |
| XM_005257766.2:c.596del | XP_005257823.1:p.Arg199LeufsTer17 | |
| XM_011525439.1:c.596del | XP_011523741.1:p.Arg199LeufsTer17 | |
| NM_001355139.1:c.596del | NP_001342068.1:p.Arg199LeufsTer17 | |
| NM_001142601.2:c.596del MANE Select | NP_001136073.1:p.Arg199LeufsTer17 | |
| NM_001142602.2:c.596del | NP_001136074.1:p.Arg199LeufsTer17 | |
| NM_001355139.2:c.596del | NP_001342068.1:p.Arg199LeufsTer17 | |
| NM_021972.4:c.638del | NP_068807.2:p.Arg213LeufsTer17 | |
| NM_182965.3:c.854del | NP_892010.2:p.Arg285LeufsTer17 |