Linked Data
ClinVar Variation Id:
56330
dbSNP Id:
rs386833777
ExAC:
10:17113434 ATC / A
gnomAD v2:
10-17113434-ATC-A
gnomAD v3:
10-17071435-ATC-A
gnomAD v4:
10-17071435-ATC-A
MyVariant Identifiers:
chr10:g.17113435_17113436del (hg19)
chr10:g.17071437_17071438del (hg38)
chr10:g.17071436_17071437del (hg38)
PubMed:
PMID:22929189
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17071437_17071438del , CM000672.2:g.17071437_17071438del | GRCh38 |
| NC_000010.10:g.17113436_17113437del , CM000672.1:g.17113436_17113437del | GRCh37 |
| NC_000010.9:g.17153442_17153443del | NCBI36 |
| NG_008967.1:g.63381_63382del , LRG_540:g.63381_63382del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.2614_2615del MANE Select | ENSP00000367064.4:p.Asp872LeufsTer3 | |
| ENST00000377833.8:c.2614_2615del | ENSP00000367064.4:p.Asp872LeufsTer3 | |
| NM_001081.3:c.2614_2615del , LRG_540t1:c.2614_2615del | NP_001072.2:p.Asp872LeufsTer3 | |
| XM_011519708.1:c.2614_2615del | XP_011518010.1:p.Asp872LeufsTer3 | |
| XM_011519708.2:c.2614_2615del | XP_011518010.1:p.Asp872LeufsTer3 | |
| NM_001081.4:c.2614_2615del MANE Select | NP_001072.2:p.Asp872LeufsTer3 |