Linked Data
ClinVar Variation Id:
419862
ClinVar RCV Id:
RCV003449201
dbSNP Id:
rs1064794155
PubMed:
PMID:15713769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47412561del , CM000664.2:g.47412561del | GRCh38 |
| NC_000002.11:g.47639700del , CM000664.1:g.47639700del | GRCh37 |
| NC_000002.10:g.47493204del | NCBI36 |
| NG_007110.2:g.14438del , LRG_218:g.14438del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644900.2:c.792+1del | ||
| ENST00000233146.7:c.792+1del | ||
| ENST00000543555.6:c.594+1del | ||
| ENST00000644092.1:c.792+1del | ||
| ENST00000645339.1:c.792+1del | ||
| ENST00000645506.1:c.792+1del | ||
| ENST00000646415.1:c.792+1del | ||
| ENST00000233146.6:c.792+1del | ||
| ENST00000406134.5:c.792+1del | ||
| ENST00000543555.5:c.594+1del | ||
| ENST00000610696.4:c.792+1del | ||
| ENST00000613514.4:c.792+1del | ||
| ENST00000617333.3:c.792+1del | ||
| ENST00000617938.4:c.792+1del | ||
| ENST00000621359.2:c.792+1del | ||
| NM_000251.2:c.792+1del , LRG_218t1:c.792+1del | ||
| NM_001258281.1:c.594+1del | ||
| XM_005264332.2:c.792+1del | ||
| XM_011532867.1:c.792+1del | ||
| XR_939685.1:n.864+1del | ||
| XM_005264332.4:c.792+1del | ||
| XM_011532867.2:c.792+1del | ||
| XR_001738747.2:n.854+1del | ||
| XR_939685.2:n.854+1del | ||
| NM_000251.3:c.792+1del |