Linked Data
ClinVar Variation Id:
92241
ClinVar RCV Id:
RCV000077847
dbSNP Id:
rs121909447
gnomAD v2:
3-52327016-CT-C
gnomAD v4:
3-52293000-CT-C
MyVariant Identifiers:
chr3:g.52327018del (hg19)
chr3:g.52327017del (hg19)
chr3:g.52293002del (hg38)
chr3:g.52293001del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293002del , CM000665.2:g.52293002del | GRCh38 |
| NC_000003.11:g.52327018del , CM000665.1:g.52327018del | GRCh37 |
| NC_000003.10:g.52302058del | NCBI36 |
| NG_023246.1:g.10183del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1448del MANE Select | ENSP00000389175.2:p.Phe483SerfsTer2 | |
| ENST00000305690.12:c.*567del | ENSP00000301965.9:n.*567del | |
| ENST00000436784.6:c.1448del | ENSP00000389175.2:p.Phe483SerfsTer2 | |
| ENST00000461183.5:c.764-44del | ENSP00000417264.1:n.764-44del | |
| ENST00000471180.5:c.635-44del | ENSP00000417526.1:n.635-44del | |
| ENST00000473032.5:c.530-44del | ENSP00000418951.1:n.530-44del | |
| ENST00000477382.1:c.*567del | ENSP00000419008.1:n.*567del | |
| ENST00000486393.5:c.*811del | ENSP00000419868.1:n.*811del | |
| ENST00000489173.1:n.1742del | ||
| NM_001144951.1:c.*567del | NP_001138423.1:n.*567del | |
| NM_145262.3:c.1448del | NP_660305.2:p.Phe483SerfsTer2 | |
| NR_026699.1:n.1546del | ||
| NR_026700.1:n.696-44del | ||
| NR_026701.1:n.1544del | ||
| NR_026702.1:n.626-44del | ||
| XM_005264878.2:c.*567del | XP_005264935.1:n.*567del | |
| XR_245095.2:n.2743-44del | ||
| XM_017005730.1:c.1067del | XP_016861219.1:p.Phe356SerfsTer2 | |
| XM_024453351.1:c.1448del | XP_024309119.1:p.Phe483SerfsTer2 | |
| XM_024453352.1:c.*567del | XP_024309120.1:n.*567del | |
| XR_001740022.2:n.3350del | ||
| XR_001740023.2:n.2918-44del | ||
| XR_245095.4:n.2744-44del | ||
| NM_145262.4:c.1448del MANE Select | NP_660305.2:p.Phe483SerfsTer2 | |
| NR_026699.2:n.1538del | ||
| NR_026700.2:n.688-44del | ||
| NR_026701.2:n.1536del | ||
| NR_026702.2:n.618-44del | ||
| NM_001144951.2:c.*567del | NP_001138423.1:n.*567del |