Linked Data
ClinVar Variation Id:
56312
ClinVar RCV Id:
RCV000049724
RCV000194003
RCV000725911
RCV001391272
RCV000626744
RCV000696362
RCV002514253
RCV002464102
RCV002490623
dbSNP Id:
rs386833760
ExAC:
4:15589551 AG / A
gnomAD v2:
4-15589551-AG-A
gnomAD v3:
4-15587928-AG-A
gnomAD v4:
4-15587928-AG-A
MyVariant Identifiers:
chr4:g.15589553del (hg19)
chr4:g.15589552del (hg19)
chr4:g.15587930del (hg38)
chr4:g.15587929del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15587930del , CM000666.2:g.15587930del | GRCh38 |
| NC_000004.11:g.15589553del , CM000666.1:g.15589553del | GRCh37 |
| NC_000004.10:g.15198651del | NCBI36 |
| NG_013035.1:g.123065del , LRG_697:g.123065del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4215+1del | ||
| ENST00000424120.6:c.4179+1del | ||
| ENST00000503292.6:c.4179+1del | ||
| ENST00000506643.5:c.4032+1del | ||
| ENST00000514039.6:c.408+1del | ||
| ENST00000634028.2:c.4032+1del | ||
| ENST00000650860.2:c.*1676+1del | ||
| ENST00000674945.1:c.3855+1del | ||
| ENST00000675768.1:n.1399+1del | ||
| ENST00000680586.1:n.4838+1del | ||
| ENST00000389652.9:c.3677+1del | ||
| ENST00000424120.5:c.4179+1del | ||
| ENST00000503292.5:c.4179+1del | ||
| ENST00000506643.4:c.2507+1del | ||
| ENST00000634028.1:c.3985+1del | ||
| NM_001080522.2:c.4179+1del , LRG_697t1:c.4179+1del | ||
| XM_005248177.1:c.4179+1del | ||
| XM_011513869.1:c.4197+1del | ||
| XM_011513870.1:c.4197+1del | ||
| XM_011513871.1:c.4050+1del | ||
| XM_017008482.1:c.4032+1del | ||
| NM_001378615.1:c.4179+1del | ||
| NM_001378617.1:c.4032+1del |