ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
MyVariant.info:
GRCh38
chr9:g.37430606del
GRCh38
chr9:g.37430605del
GRCh37
chr9:g.37430603del
GRCh37
chr9:g.37430602del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37430606del , CM000671.2:g.37430606del | GRCh38 |
| NC_000009.11:g.37430603del , CM000671.1:g.37430603del | GRCh37 |
| NC_000009.10:g.37420603del | NCBI36 |
| NG_008135.1:g.12897del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.694del MANE Select | ENSP00000313432.6:p.Gln232ArgfsTer3 | |
| ENST00000318158.10:c.694del | ENSP00000313432.6:p.Gln232ArgfsTer3 | |
| ENST00000377824.8:n.731del | ||
| ENST00000460882.5:n.721del | ||
| ENST00000480596.5:n.1395del | ||
| ENST00000482603.1:n.147del | ||
| ENST00000491488.5:n.399del | ||
| ENST00000494290.1:c.265del | ENSP00000432021.1:p.Gln89ArgfsTer3 | |
| ENST00000497693.1:n.2901del | ||
| ENST00000607784.1:c.694del | ENSP00000475569.1:p.Gln232ArgfsTer3 | |
| NM_012203.1:c.694del | NP_036335.1:p.Gln232ArgfsTer3 | |
| XM_005251631.1:c.373del | XP_005251688.1:p.Gln125ArgfsTer3 | |
| XM_011518073.1:c.292del | XP_011516375.1:p.Gln98ArgfsTer3 | |
| XM_017015320.2:c.694del | XP_016870809.1:p.Gln232ArgfsTer3 | |
| XM_017015321.2:c.694del | XP_016870810.1:p.Gln232ArgfsTer3 | |
| XM_017015323.2:c.292del | XP_016870812.1:p.Gln98ArgfsTer3 | |
| XM_024447716.1:c.967del | XP_024303484.1:p.Gln323ArgfsTer3 | |
| XM_024447717.1:c.967del | XP_024303485.1:p.Gln323ArgfsTer3 | |
| XR_002956828.1:n.982del | ||
| XR_002956829.1:n.982del | ||
| XR_002956830.1:n.753del | ||
| XR_002956831.1:n.428del | ||
| XR_002956832.1:n.1113del | ||
| NM_012203.2:c.694del MANE Select | NP_036335.1:p.Gln232ArgfsTer3 |