gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00073068 (EAS)
Genomes Max Group AF
0.00050443 (EAS)
Exomes Max Group AF
0.00069436 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189282_20189283del , CM000675.2:g.20189282_20189283del | GRCh38 |
| NC_000013.10:g.20763421_20763422del , CM000675.1:g.20763421_20763422del | GRCh37 |
| NC_000013.9:g.19661421_19661422del | NCBI36 |
| NG_008358.1:g.8693_8694del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.299_300del | ENSP00000372295.1:p.His100ArgfsTer14 | |
| ENST00000382848.5:c.299_300del MANE Select | ENSP00000372299.4:p.His100ArgfsTer14 | |
| ENST00000382844.1:c.299_300del | ENSP00000372295.1:p.His100ArgfsTer14 | |
| ENST00000382848.4:c.299_300del | ENSP00000372299.4:p.His100ArgfsTer14 | |
| NM_004004.5:c.299_300del | NP_003995.2:p.His100ArgfsTer14 | |
| XM_011535049.1:c.299_300del | XP_011533351.1:p.His100ArgfsTer14 | |
| XM_011535049.2:c.299_300del | XP_011533351.1:p.His100ArgfsTer14 | |
| NM_004004.6:c.299_300del MANE Select | NP_003995.2:p.His100ArgfsTer14 |