Linked Data
ClinVar Variation Id:
156275
ClinVar RCV Id:
RCV000144263
dbSNP Id:
rs1553721650
PubMed:
PMID:25233259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120675488_120676136del , CM000665.2:g.120675488_120676136del | GRCh38 |
| NC_000003.11:g.120394335_120394983del , CM000665.1:g.120394335_120394983del | GRCh37 |
| NC_000003.10:g.121877025_121877673del | NCBI36 |
| NG_011957.1:g.11347_11995del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.16-272_87+305del | ||
| ENST00000283871.9:c.16-272_87+305del | ||
| ENST00000466528.5:n.42-272_113+305del | ||
| ENST00000476082.2:c.-19-272_53+305del | ||
| ENST00000480862.1:n.174-272_245+305del | ||
| ENST00000485313.5:n.124-272_195+305del | ||
| ENST00000488183.5:n.274-272_345+305del | ||
| NM_000187.3:c.16-272_87+305del | ||
| XM_005247412.1:c.16-272_87+305del | ||
| XM_005247413.1:c.16-272_87+305del | ||
| XM_005247414.3:c.16-272_87+305del | ||
| XM_011512746.1:c.16-272_87+305del | ||
| XM_005247412.2:c.16-272_87+305del | ||
| XM_005247413.2:c.16-272_87+305del | ||
| XM_005247414.5:c.16-272_87+305del | ||
| XM_011512746.2:c.16-272_87+305del | ||
| XM_017006277.2:c.-408-272_-337+305del | ||
| NM_000187.4:c.16-272_87+305del |