gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011164 (NFE)
Genomes Max Group AF
0.0000905 (NFE)
Exomes Max Group AF
0.00010872 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26477476del , CM000664.2:g.26477476del | GRCh38 |
| NC_000002.11:g.26700344del , CM000664.1:g.26700344del | GRCh37 |
| NC_000002.10:g.26553848del | NCBI36 |
| NG_009937.1:g.86225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.2348del MANE Select | ENSP00000272371.2:p.Gly783AlafsTer17 | |
| ENST00000339598.8:c.107del MANE Plus Clinical | ENSP00000344521.3:p.Gly36AlafsTer17 | |
| ENST00000402415.8:c.107del | ENSP00000383906.4:p.Gly36AlafsTer17 | |
| ENST00000272371.6:c.2348del | ENSP00000272371.2:p.Gly783AlafsTer17 | |
| ENST00000338581.10:c.107del | ENSP00000345137.6:p.Gly36AlafsTer17 | |
| ENST00000339598.7:c.107del | ENSP00000344521.3:p.Gly36AlafsTer17 | |
| ENST00000402415.7:c.278del | ENSP00000383906.3:p.Gly93AlafsTer17 | |
| ENST00000403946.7:c.2348del | ENSP00000385255.3:p.Gly783AlafsTer17 | |
| NM_001287489.1:c.2348del | NP_001274418.1:p.Gly783AlafsTer17 | |
| NM_004802.3:c.107del | NP_004793.2:p.Gly36AlafsTer17 | |
| NM_194248.2:c.2348del | NP_919224.1:p.Gly783AlafsTer17 | |
| NM_194322.2:c.278del | NP_919303.1:p.Gly93AlafsTer17 | |
| NM_194323.2:c.107del | NP_919304.1:p.Gly36AlafsTer17 | |
| XM_005264644.2:c.2393del | XP_005264701.1:p.Gly798AlafsTer17 | |
| XM_011533185.1:c.2393del | XP_011531487.1:p.Gly798AlafsTer17 | |
| XM_017005338.1:c.2348del | XP_016860827.1:p.Gly783AlafsTer17 | |
| NM_001287489.2:c.2348del | NP_001274418.1:p.Gly783AlafsTer17 | |
| NM_004802.4:c.107del | NP_004793.2:p.Gly36AlafsTer17 | |
| NM_194248.3:c.2348del MANE Select | NP_919224.1:p.Gly783AlafsTer17 | |
| NM_194322.3:c.278del | NP_919303.1:p.Gly93AlafsTer17 | |
| NM_194323.3:c.107del MANE Plus Clinical | NP_919304.1:p.Gly36AlafsTer17 |