Linked Data
ClinVar Variation Id:
97289
ClinVar RCV Id:
RCV000083533
dbSNP Id:
rs67839039
PubMed:
PMID:9266388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408743del , CM000685.2:g.38408743del | GRCh38 |
| NC_000023.10:g.38267996del , CM000685.1:g.38267996del | GRCh37 |
| NC_000023.9:g.38152940del | NCBI36 |
| NG_008471.1:g.61261del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.665del | ||
| ENST00000643344.1:c.*415del | ||
| ENST00000039007.4:c.665del | ||
| ENST00000465127.1:c.172-257378del | ENSP00000417050.1:n.172-257378del | |
| NM_000531.5:c.665del | ||
| XM_017029556.1:c.665del | ||
| NM_000531.6:c.665del |