gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019379 (AMR)
Genomes Max Group AF
0.00012872 (AMR)
Exomes Max Group AF
0.00017149 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370847_34370848del , CM000683.2:g.34370847_34370848del | GRCh38 |
| NC_000021.8:g.35743146_35743147del , CM000683.1:g.35743146_35743147del | GRCh37 |
| NC_000021.7:g.34665016_34665017del | NCBI36 |
| NG_008804.1:g.11824_11825del , LRG_291:g.11824_11825del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.369_370del MANE Select | ENSP00000290310.2:p.Ter124IleextTer15 | |
| ENST00000290310.3:c.369_370del | ENSP00000290310.2:p.Ter124IleextTer15 | |
| NM_172201.1:c.369_370del , LRG_291t1:c.369_370del | NP_751951.1:p.Ter124IleextTer15 | |
| XR_937683.1:n.473_474del | ||
| XR_937684.1:n.473_474del | ||
| XR_001755012.2:n.594_595del | ||
| XR_001755013.2:n.473_474del | ||
| XR_937683.2:n.473_474del | ||
| NM_172201.2:c.369_370del MANE Select | NP_751951.1:p.Ter124IleextTer15 |