UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
557082
ClinVar RCV Id:
RCV000673173
dbSNP Id:
rs1555472553
gnomAD v4:
15-72347691-CT-C
MyVariant Identifiers:
chr15:g.72347692del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72347694del , CM000677.2:g.72347694del | GRCh38 |
| NC_000015.9:g.72640035del , CM000677.1:g.72640035del | GRCh37 |
| NC_000015.8:g.70427089del | NCBI36 |
| NG_009017.1:g.33488del | |
| NG_009017.2:g.33488del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567027.6:c.1073+356del | ENSP00000457521.2:n.1073+356del | |
| ENST00000682061.1:c.*802del | ENSP00000508316.1:n.*802del | |
| ENST00000682177.1:c.1183del | ENSP00000507409.1:n.1183del | |
| ENST00000682461.1:c.1246del | ENSP00000507308.1:n.1246del | |
| ENST00000682653.1:n.1460del | ||
| ENST00000682657.1:c.*483+356del | ENSP00000507753.1:n.*483+356del | |
| ENST00000682721.1:c.*943del | ENSP00000507535.1:n.*943del | |
| ENST00000682843.1:c.*971+356del | ENSP00000508173.1:n.*971+356del | |
| ENST00000683003.1:c.*483+356del | ENSP00000507576.1:n.*483+356del | |
| ENST00000683133.1:c.1324del | ENSP00000508108.1:n.1324del | |
| ENST00000683228.1:n.1171del | ||
| ENST00000683243.1:c.*483+356del | ENSP00000507042.1:n.*483+356del | |
| ENST00000683463.1:c.1073+356del | ENSP00000507986.1:n.1073+356del | |
| ENST00000683548.1:n.1104+356del | ||
| ENST00000683579.1:c.*1038del | ENSP00000506867.1:n.*1038del | |
| ENST00000683587.1:n.1171del | ||
| ENST00000683681.1:c.1140del | ENSP00000508110.1:p.Val381Ter | |
| ENST00000683735.1:c.*1038del | ENSP00000508336.1:n.*1038del | |
| ENST00000683742.1:n.971del | ||
| ENST00000683853.1:c.1073+356del | ENSP00000506834.1:n.1073+356del | |
| ENST00000683860.1:c.1140del | ENSP00000507179.1:p.Val381Ter | |
| ENST00000683884.1:c.1140del | ENSP00000507004.1:p.Val381Ter | |
| ENST00000684041.1:c.1140del | ENSP00000508382.1:p.Val381Ter | |
| ENST00000684125.1:c.1073+356del | ENSP00000507320.1:n.1073+356del | |
| ENST00000684203.1:n.2911+356del | ||
| ENST00000684231.1:c.*550del | ENSP00000507748.1:n.*550del | |
| ENST00000684263.1:c.*80del | ENSP00000508369.1:n.*80del | |
| ENST00000684305.1:c.1588del | ENSP00000506819.1:n.1588del | |
| ENST00000684415.1:c.*13+339del | ENSP00000507227.1:n.*13+339del | |
| ENST00000684520.1:c.1140del | ENSP00000506826.1:p.Val381Ter | |
| ENST00000684602.1:c.*806del | ENSP00000507996.1:n.*806del | |
| ENST00000684667.1:c.1471del | ENSP00000507003.1:n.1471del | |
| ENST00000268097.10:c.1140del MANE Select | ENSP00000268097.6:p.Val381Ter | |
| ENST00000268097.9:c.1140del | ENSP00000268097.5:p.Val381Ter | |
| ENST00000379915.4:c.413-1367del | ENSP00000478716.1:n.413-1367del | |
| ENST00000563762.5:c.825+356del | ENSP00000456346.1:n.825+356del | |
| ENST00000566304.5:c.1173del | ENSP00000455114.1:p.Val392Ter | |
| ENST00000566672.5:c.*550del | ENSP00000457037.1:n.*550del | |
| ENST00000567027.5:c.945+356del | ||
| ENST00000567159.5:c.1140del | ENSP00000456489.1:p.Val381Ter | |
| ENST00000567411.5:c.*661del | ENSP00000455545.1:n.*661del | |
| ENST00000568777.5:n.6544del | ||
| ENST00000569410.5:c.1073+356del | ENSP00000457125.1:n.1073+356del | |
| NM_000520.4:c.1140del | NP_000511.2:p.Val381Ter | |
| NM_000520.5:c.1140del | NP_000511.2:p.Val381Ter | |
| NM_001318825.1:c.1173del | NP_001305754.1:p.Val392Ter | |
| NR_134869.1:n.1574+356del | ||
| NM_000520.6:c.1140del MANE Select | NP_000511.2:p.Val381Ter | |
| NM_001318825.2:c.1173del | NP_001305754.1:p.Val392Ter | |
| NR_134869.2:n.1115+356del | ||
| NR_134869.3:n.1115+356del |