Linked Data
ClinVar Variation Id:
13582
ClinVar RCV Id:
RCV000014550
dbSNP Id:
rs606231210
PubMed:
PMID:10233898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160741418del , CM000668.2:g.160741418del | GRCh38 |
| NC_000006.11:g.161162450del , CM000668.1:g.161162450del | GRCh37 |
| NC_000006.10:g.161082440del | NCBI36 |
| NG_016200.1:g.44226del , LRG_571:g.44226del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297289.9:c.1078+1del | ||
| ENST00000418964.2:c.2176+1del | ||
| ENST00000706906.1:c.*2145+1del | ||
| ENST00000308192.14:c.2125+1del | ||
| ENST00000308192.13:c.2125+1del | ||
| ENST00000461414.2:n.99+50del | ||
| ENST00000467466.1:n.426+1del | ||
| NM_000301.3:c.2125+1del , LRG_571t1:c.2125+1del | ||
| NM_000301.4:c.2125+1del | ||
| NM_000301.5:c.2125+1del |