Linked Data
ClinVar Variation Id:
464393
ClinVar RCV Id:
RCV000549377
dbSNP Id:
rs527520007
ExAC:
4:83348464 AC / A
gnomAD v2:
4-83348464-AC-A
gnomAD v3:
4-82427311-AC-A
gnomAD v4:
4-82427311-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.82427312del , CM000666.2:g.82427312del | GRCh38 |
| NC_000004.11:g.83348465del , CM000666.1:g.83348465del | GRCh37 |
| NC_000004.10:g.83567489del | NCBI36 |
| NG_029681.1:g.7914del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295470.10:c.907-8del MANE Select | ENSP00000295470.5:n.907-8del | |
| ENST00000295470.9:c.907-8del | ENSP00000295470.5:n.907-8del | |
| ENST00000349655.8:c.550-8del | ENSP00000338552.5:n.550-8del | |
| ENST00000502762.4:c.907-8del | ENSP00000422040.1:n.907-8del | |
| ENST00000507721.5:c.550-8del | ENSP00000480156.1:n.550-8del | |
| ENST00000514511.1:c.*45-8del | ENSP00000478269.1:n.*45-8del | |
| ENST00000602300.5:c.550-8del | ENSP00000473677.1:n.550-8del | |
| ENST00000614627.4:c.907-8del | ENSP00000478723.1:n.907-8del | |
| ENST00000621267.4:c.907-8del | ENSP00000483254.1:n.907-8del | |
| ENST00000630114.2:c.550-8del | ENSP00000486452.1:n.550-8del | |
| ENST00000630827.1:c.550-8del | ENSP00000485954.1:n.550-8del | |
| NM_001207000.1:c.907-8del | NP_001193929.1:n.907-8del | |
| NM_031372.3:c.907-8del | NP_112740.1:n.907-8del | |
| NR_003249.2:n.1442-8del | ||
| NM_031372.4:c.907-8del MANE Select | NP_112740.1:n.907-8del |