gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00060517 (AMR)
Genomes Max Group AF
0.00170225 (AMR)
Exomes Max Group AF
0.00015445 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109141468_109141470del , CM000671.2:g.109141468_109141470del | GRCh38 |
| NC_000009.11:g.111903748_111903750del , CM000671.1:g.111903748_111903750del | GRCh37 |
| NC_000009.10:g.110943569_110943571del | NCBI36 |
| NG_051235.1:g.30824_30826del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561981.5:c.584_586del MANE Select | ENSP00000477141.2:p.Gly195del | |
| ENST00000642157.1:n.2819_2821del | ||
| ENST00000644736.1:c.581_583del | ||
| ENST00000644747.1:c.364_366del | ENSP00000493964.1:n.364_366del | |
| ENST00000645180.1:n.1335_1337del | ||
| ENST00000561981.2:c.737_739del | ENSP00000477141.1:p.Gly246del | |
| NM_014334.2:c.737_739del | NP_055149.2:p.Gly246del | |
| XM_011518453.1:c.389_391del | XP_011516755.1:p.Gly130del | |
| XM_011518454.1:c.389_391del | XP_011516756.1:p.Gly130del | |
| NM_014334.3:c.737_739del | NP_055149.2:p.Gly246del | |
| XM_011518454.3:c.389_391del | XP_011516756.1:p.Gly130del | |
| NM_014334.4:c.584_586del MANE Select | NP_055149.3:p.Gly195del |