Linked Data
ClinVar Variation Id:
375420
ClinVar RCV Id:
RCV000416515
dbSNP Id:
rs1057519471
PubMed:
PMID:28513611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610545_1610554del , CM000668.2:g.1610545_1610554del | GRCh38 |
| NC_000006.11:g.1610780_1610789del , CM000668.1:g.1610780_1610789del | GRCh37 |
| NC_000006.10:g.1555779_1555788del | NCBI36 |
| NG_009368.1:g.5100_5109del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.100_109del MANE Select | ENSP00000493906.1:p.Gly34ThrfsTer8 | |
| ENST00000380874.3:c.100_109del | ENSP00000370256.2:p.Gly34ThrfsTer8 | |
| NM_001453.2:c.100_109del | NP_001444.2:p.Gly34ThrfsTer8 | |
| NM_001453.3:c.100_109del MANE Select | NP_001444.2:p.Gly34ThrfsTer8 |