Linked Data
ClinVar Variation Id:
557494
ClinVar RCV Id:
RCV000673643
dbSNP Id:
rs750330966
gnomAD v4:
15-89776930-GCAGGGGCAAGGACAGGGGCAAGGA-G
MyVariant Identifiers:
chr15:g.89776942_89776965del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776942_89776965del , CM000677.2:g.89776942_89776965del | GRCh38 |
| NC_000015.9:g.90320173_90320196del , CM000677.1:g.90320173_90320196del | GRCh37 |
| NC_000015.8:g.88121177_88121200del | NCBI36 |
| NG_008608.1:g.5585_5608del | |
| NG_008608.2:g.21352_21375del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.585_608del MANE Select | ENSP00000342392.3:p.Gln196_Gly203del | |
| ENST00000341735.3:c.585_608del | ENSP00000342392.3:p.Gln196_Gly203del | |
| ENST00000558723.1:n.39-1123_39-1100del | ||
| ENST00000560219.2:c.31-1123_31-1100del | ENSP00000452998.1:n.31-1123_31-1100del | |
| NM_001039958.1:c.585_608del | NP_001035047.1:p.Gln196_Gly203del | |
| NM_001039958.2:c.585_608del MANE Select | NP_001035047.1:p.Gln196_Gly203del |