gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41373066 (EAS)
Genomes Max Group AF
0.39038356 (EAS)
Exomes Max Group AF
0.41521548 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.70011458del , CM000676.2:g.70011458del | GRCh38 |
| NC_000014.8:g.70478175del , CM000676.1:g.70478175del | GRCh37 |
| NC_000014.7:g.69547928del | NCBI36 |
| NG_028217.1:g.137062del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361956.8:c.858-27del MANE Select | ENSP00000355110.4:n.858-27del | |
| ENST00000361956.7:c.858-27del | ENSP00000355110.3:n.858-27del | |
| ENST00000381280.4:c.858-27del | ENSP00000370680.4:n.858-27del | |
| ENST00000557483.1:n.436-27del | ||
| NM_001034852.2:c.858-27del | NP_001030024.1:n.858-27del | |
| NM_022137.5:c.858-27del | NP_071420.1:n.858-27del | |
| XM_005267995.1:c.891-27del | XP_005268052.1:n.891-27del | |
| XM_005267996.1:c.891-27del | XP_005268053.1:n.891-27del | |
| NM_001034852.3:c.858-27del MANE Select | NP_001030024.1:n.858-27del | |
| NM_022137.6:c.858-27del | NP_071420.1:n.858-27del |