Linked Data
ClinVar Variation Id:
999547
ClinVar RCV Id:
RCV001295560
dbSNP Id:
rs2038678414
gnomAD v4:
19-50402300-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50402301_50402302del , CM000681.2:g.50402301_50402302del | GRCh38 |
| NC_000019.9:g.50905558_50905559del , CM000681.1:g.50905558_50905559del | GRCh37 |
| NC_000019.8:g.55597370_55597371del | NCBI36 |
| NG_033800.1:g.22979_22980del , LRG_785:g.22979_22980del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593887.2:c.686_687del | ENSP00000472607.2:p.Gln229ArgfsTer22 | |
| ENST00000600746.2:n.877_878del | ||
| ENST00000644560.2:c.686_687del | ENSP00000495618.2:p.Gln229ArgfsTer22 | |
| ENST00000687454.1:c.686_687del | ENSP00000510052.1:p.Gln229ArgfsTer22 | |
| ENST00000440232.7:c.686_687del MANE Select | ENSP00000406046.1:p.Gln229ArgfsTer22 | |
| ENST00000595904.6:c.686_687del | ENSP00000472445.1:p.Gln229ArgfsTer22 | |
| ENST00000599857.7:c.686_687del | ENSP00000473052.1:p.Gln229ArgfsTer22 | |
| ENST00000601098.6:c.686_687del | ENSP00000472600.2:p.Gln229ArgfsTer22 | |
| ENST00000613923.6:c.686_687del | ENSP00000481858.2:p.Gln229ArgfsTer22 | |
| ENST00000643407.1:c.686_687del | ENSP00000496078.1:p.Gln229ArgfsTer22 | |
| ENST00000440232.6:c.686_687del | ENSP00000406046.1:p.Gln229ArgfsTer22 | |
| ENST00000595904.5:c.686_687del | ENSP00000472445.1:p.Gln229ArgfsTer22 | |
| ENST00000599857.5:c.686_687del | ENSP00000473052.1:p.Gln229ArgfsTer22 | |
| ENST00000600746.1:n.791_792del | ||
| ENST00000600859.5:c.686_687del | ENSP00000470726.1:p.Gln229ArgfsTer22 | |
| ENST00000613923.4:c.686_687del | ENSP00000481858.1:p.Gln229ArgfsTer22 | |
| NM_001256849.1:c.686_687del , LRG_785t1:c.686_687del | NP_001243778.1:p.Gln229ArgfsTer22 | |
| NM_001308632.1:c.686_687del , LRG_785t2:c.686_687del | NP_001295561.1:p.Gln229ArgfsTer22 | |
| NM_002691.3:c.686_687del | NP_002682.2:p.Gln229ArgfsTer22 | |
| NR_046402.1:n.755_756del | ||
| XM_005259008.3:c.686_687del | XP_005259065.1:p.Gln229ArgfsTer22 | |
| XM_011527038.1:c.686_687del | XP_011525340.1:p.Gln229ArgfsTer22 | |
| XM_011527039.1:c.686_687del | XP_011525341.1:p.Gln229ArgfsTer22 | |
| XR_935835.1:n.788_789del | ||
| XM_005259008.4:c.686_687del | XP_005259065.1:p.Gln229ArgfsTer22 | |
| XM_017026881.1:c.686_687del | XP_016882370.1:p.Gln229ArgfsTer22 | |
| XM_017026882.2:c.686_687del | XP_016882371.1:p.Gln229ArgfsTer22 | |
| XR_935835.2:n.787_788del | ||
| NM_002691.4:c.686_687del MANE Select | NP_002682.2:p.Gln229ArgfsTer22 | |
| NR_046402.2:n.731_732del |