Linked Data
ClinVar Variation Id:
372143
ClinVar RCV Id:
RCV000412580
dbSNP Id:
rs1557072752
PubMed:
PMID:26264460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153797157_153798056del , CM000685.2:g.153797157_153798056del | GRCh38 |
| NC_000023.10:g.153062612_153063511del , CM000685.1:g.153062612_153063511del | GRCh37 |
| NC_000023.9:g.152715806_152716705del | NCBI36 |
| NG_041795.1:g.7983_8882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370086.8:c.187-301_352-15del | ||
| ENST00000320857.7:c.187-301_352-15del | ||
| ENST00000370085.3:c.187-568_277-15del | ||
| ENST00000370086.7:c.187-301_352-15del | ||
| ENST00000370087.5:c.187-301_352-15del | ||
| ENST00000460616.5:n.1895-301_2060-15del | ||
| ENST00000471880.5:n.390-301_555-15del | ||
| ENST00000482902.5:n.1713_2179-15del | ||
| ENST00000485612.5:n.302-301_467-15del | ||
| ENST00000486204.5:n.259-301_424-15del | ||
| NM_001204526.1:c.220-301_385-15del | ||
| NM_001204527.1:c.211-301_376-15del | ||
| NM_006280.2:c.187-301_352-15del | ||
| NR_037927.1:n.532-301_697-15del | ||
| XM_011531186.1:c.187-301_352-15del | ||
| XM_011531187.1:c.187-301_352-15del | ||
| XM_017029756.1:c.-3-301_163-15del | ||
| XM_017029757.1:c.-3-301_163-15del | ||
| XM_024452428.1:c.-3-301_163-15del | ||
| NM_001204527.2:c.211-301_376-15del | ||
| NM_006280.3:c.187-301_352-15del |