Linked Data
ClinVar Variation Id:
190389
ClinVar RCV Id:
RCV000170527
dbSNP Id:
rs886037746
PubMed:
PMID:23830146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46978908del , CM000664.2:g.46978908del | GRCh38 |
| NC_000002.11:g.47206047del , CM000664.1:g.47206047del | GRCh37 |
| NC_000002.10:g.47059551del | NCBI36 |
| NG_034143.1:g.67780del | |
| NG_034143.2:g.67780del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.1769+1del | ||
| ENST00000319190.11:c.764+1del | ||
| ENST00000319190.9:c.764+1del | ||
| ENST00000394850.6:c.764+1del | ||
| ENST00000409245.5:c.662+1del | ||
| ENST00000409825.5:c.712+1del | ||
| ENST00000441914.5:c.763+1del | ||
| ENST00000461601.5:n.1089+1del | ||
| ENST00000474321.6:n.248+1del | ||
| ENST00000491786.5:n.168+1del | ||
| NM_001288951.1:c.764+1del | ||
| NM_001288953.1:c.662+1del | ||
| NM_001288955.1:c.-141+1del | ||
| NM_020458.3:c.764+1del | ||
| XM_005264439.2:c.407+1del | ||
| XM_011532998.1:c.407+1del | ||
| XM_011532999.1:c.764+1del | ||
| XM_011533000.1:c.-17+1del | ||
| XR_939696.1:n.1069+1del | ||
| XM_005264439.4:c.407+1del | ||
| XM_011532998.3:c.407+1del | ||
| XM_011532999.2:c.764+1del | ||
| XM_011533000.3:c.-17+1del | ||
| XM_017004524.1:c.764+1del | ||
| XM_017004525.1:c.596+1del | ||
| XM_017004526.1:c.764+1del | ||
| XM_017004529.1:c.764+1del | ||
| XR_001738853.2:n.1076+1del | ||
| XR_001738854.1:n.1075+1del | ||
| NM_020458.4:c.764+1del | ||
| NM_001288951.2:c.764+1del | ||
| NM_001288953.2:c.662+1del | ||
| NM_001288955.2:c.-141+1del |