Linked Data
ClinVar Variation Id:
945587
ClinVar RCV Id:
RCV001216255
dbSNP Id:
rs747546798
ExAC:
15:80472530 CG / C
gnomAD v2:
15-80472530-CG-C
gnomAD v3:
15-80180188-CG-C
gnomAD v4:
15-80180188-CG-C
MyVariant Identifiers:
chr15:g.80472531del (hg19)
chr15:g.80180190del (hg38)
chr15:g.80180189del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80180193del , CM000677.2:g.80180193del | GRCh38 |
| NC_000015.9:g.80472535del , CM000677.1:g.80472535del | GRCh37 |
| NC_000015.8:g.78259590del | NCBI36 |
| NG_012833.1:g.32195del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.1119del | ||
| ENST00000561421.6:c.1030del MANE Select | ENSP00000453347.2:p.Asp344ThrfsTer30 | |
| ENST00000646551.1:n.2644del | ||
| ENST00000261755.9:c.1030del | ENSP00000261755.5:p.Asp344ThrfsTer30 | |
| ENST00000407106.5:c.1030del | ENSP00000385080.1:p.Asp344ThrfsTer30 | |
| ENST00000539156.5:c.820del | ENSP00000454271.1:p.Asp274ThrfsTer30 | |
| ENST00000559217.1:n.247del | ||
| ENST00000561353.2:c.128del | ||
| ENST00000561421.5:c.1030del | ENSP00000453347.1:p.Asp344ThrfsTer30 | |
| NM_000137.2:c.1030del | NP_000128.1:p.Asp344ThrfsTer30 | |
| XM_024449872.1:c.1030del | XP_024305640.1:p.Asp344ThrfsTer30 | |
| NM_000137.4:c.1030del MANE Select | NP_000128.1:p.Asp344ThrfsTer30 | |
| NM_001374377.1:c.1030del | NP_001361306.1:p.Asp344ThrfsTer30 | |
| NM_001374380.1:c.1030del | NP_001361309.1:p.Asp344ThrfsTer30 |