Linked Data
ClinVar Variation Id:
524987
ClinVar RCV Id:
RCV000628931
dbSNP Id:
rs1555863715
gnomAD v4:
19-55154779-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154785_55154786del , CM000681.2:g.55154785_55154786del | GRCh38 |
| NC_000019.9:g.55666153_55666154del , CM000681.1:g.55666153_55666154del | GRCh37 |
| NC_000019.8:g.60357965_60357966del | NCBI36 |
| NG_007866.2:g.7952_7953del , LRG_432:g.7952_7953del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.332_333del MANE Select | ENSP00000341838.5:p.Arg111IlefsTer23 | |
| ENST00000665070.1:c.332_333del | ENSP00000499482.1:p.Arg111IlefsTer? | |
| ENST00000344887.9:c.332_333del | ENSP00000341838.5:p.Arg111IlefsTer23 | |
| ENST00000585806.5:n.331_332del | ||
| ENST00000586669.5:n.340_341del | ||
| ENST00000587176.5:n.516_517del | ||
| ENST00000587871.1:c.951_952del | ||
| ENST00000588882.1:c.257_258del | ENSP00000466729.1:p.Arg86IlefsTer23 | |
| ENST00000590463.1:n.504_505del | ||
| NM_000363.4:c.332_333del , LRG_432t1:c.332_333del | NP_000354.4:p.Arg111IlefsTer23 | |
| NM_000363.5:c.332_333del MANE Select | NP_000354.4:p.Arg111IlefsTer23 |