MyVariant.info:
GRCh38
chr8:g.27780269_27780272del
GRCh38
chr8:g.27780267_27780270del
GRCh38
chr8:g.27780266_27780269del
GRCh37
chr8:g.27637786_27637789del
GRCh37
chr8:g.27637783_27637786del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007667 (SAS)
Genomes Max Group AF
0.00001926 (AFR)
Exomes Max Group AF
0.00008064 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27780269_27780272del , CM000670.2:g.27780269_27780272del | GRCh38 |
| NC_000008.10:g.27637786_27637789del , CM000670.1:g.27637786_27637789del | GRCh37 |
| NC_000008.9:g.27693705_27693708del | NCBI36 |
| NG_008117.1:g.10729_10732del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.955+2_955+5del | ||
| ENST00000305188.12:c.955+2_955+5del | ||
| ENST00000518262.5:c.69+2_69+5del | ||
| ENST00000522378.5:c.861+3100_861+3103del | ENSP00000428928.1:n.861+3100_861+3103del | |
| NM_001017420.2:c.955+2_955+5del | ||
| XM_011544421.1:c.955+2_955+5del | ||
| XM_011544422.1:c.955+2_955+5del | ||
| XR_949378.1:n.1039+2_1039+5del | ||
| XR_949379.1:n.1039+2_1039+5del | ||
| XM_011544421.2:c.955+2_955+5del | ||
| XM_011544422.2:c.955+2_955+5del | ||
| XR_949378.3:n.1039+2_1039+5del | ||
| NM_001017420.3:c.955+2_955+5del |