Linked Data
ClinVar Variation Id:
437963
dbSNP Id:
rs782604129
ExAC:
10:48390043 TGAA / T
gnomAD v2:
10-48390043-TGAA-T
gnomAD v3:
10-47349308-ACTT-A
gnomAD v4:
10-47349308-ACTT-A
MyVariant Identifiers:
chr10:g.48390044_48390046del (hg19)
chr10:g.47349316_47349318del (hg38)
chr10:g.47349309_47349311del (hg38)
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47349316_47349318del , CM000672.2:g.47349316_47349318del | GRCh38 |
| NC_000010.10:g.48390051_48390053del , CM000672.1:g.48390051_48390053del | GRCh37 |
| NC_000010.9:g.48010057_48010059del | NCBI36 |
| NG_029718.1:g.5946_5948del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.832_834del MANE Select | ENSP00000463151.1:p.Phe278del | |
| ENST00000584701.1:c.832_834del | ENSP00000463151.1:p.Phe278del | |
| NM_002900.2:c.832_834del | NP_002891.1:p.Phe278del | |
| NM_002900.3:c.832_834del MANE Select | NP_002891.1:p.Phe278del |