Linked Data
ClinVar Variation Id:
425921
ClinVar RCV Id:
RCV000488496
dbSNP Id:
rs1085307333
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202542313del , CM000664.2:g.202542313del | GRCh38 |
| NC_000002.11:g.203407036del , CM000664.1:g.203407036del | GRCh37 |
| NC_000002.10:g.203115281del | NCBI36 |
| NG_009363.1:g.170987del , LRG_712:g.170987del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1279del | ||
| ENST00000638587.1:c.1210del | ||
| ENST00000374574.2:c.1279del | ||
| ENST00000374580.8:c.1279del | ||
| NM_001204.6:c.1279del , LRG_712t1:c.1279del | ||
| XM_011511687.1:c.1279del | ||
| XM_011511688.1:c.1279del | ||
| NM_001204.7:c.1279del |