MyVariant.info:
GRCh38
chr4:g.15567677del
GRCh38
chr4:g.15567676del
GRCh37
chr4:g.15569300del
GRCh37
chr4:g.15569299del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00030398 (NFE)
Genomes Max Group AF
0.00029241 (NFE)
Exomes Max Group AF
0.00029829 (NFE)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15567677del , CM000666.2:g.15567677del | GRCh38 |
| NC_000004.11:g.15569300del , CM000666.1:g.15569300del | GRCh37 |
| NC_000004.10:g.15178398del | NCBI36 |
| NG_013035.1:g.102812del , LRG_697:g.102812del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.3304del | ||
| ENST00000424120.6:c.3289del | ||
| ENST00000503292.6:c.3289del | ||
| ENST00000506643.5:c.3142del | ||
| ENST00000634028.2:c.3142del | ||
| ENST00000650860.2:c.*295del | ||
| ENST00000674945.1:c.3142del | ||
| ENST00000675619.1:n.4100del | ||
| ENST00000675768.1:n.509del | ||
| ENST00000676337.1:c.*295del | ||
| ENST00000680586.1:n.3948del | ||
| ENST00000389652.9:c.2766del | ||
| ENST00000424120.5:c.3289del | ||
| ENST00000503292.5:c.3289del | ||
| ENST00000506643.4:c.1617del | ||
| ENST00000634028.1:c.3272del | ||
| NM_001080522.2:c.3289del , LRG_697t1:c.3289del | ||
| XM_005248177.1:c.3289del | ||
| XM_011513869.1:c.3289del | ||
| XM_011513870.1:c.3289del | ||
| XM_011513871.1:c.3142del | ||
| XM_017008482.1:c.3142del | ||
| XR_001741296.1:n.3534del | ||
| NM_001378615.1:c.3289del | ||
| NM_001378617.1:c.3142del |