gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00302044 (AMR)
Genomes Max Group AF
0.00076064 (AMR)
Exomes Max Group AF
0.00368066 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162277440_162277443del , CM000664.2:g.162277440_162277443del | GRCh38 |
| NC_000002.11:g.163133950_163133953del , CM000664.1:g.163133950_163133953del | GRCh37 |
| NC_000002.10:g.162842196_162842199del | NCBI36 |
| NG_011495.1:g.46091_46094del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1617_*1620del | ENSP00000513228.1:n.*1617_*1620del | |
| ENST00000648433.1:c.1903_1906del | ENSP00000496816.1:p.Arg635PhefsTer3 | |
| ENST00000649554.1:n.1630_1633del | ||
| ENST00000649979.2:c.2020_2023del MANE Select | ENSP00000497271.1:p.Arg674PhefsTer3 | |
| ENST00000679938.1:c.1708_1711del | ENSP00000505518.1:p.Arg570PhefsTer3 | |
| ENST00000263642.2:c.2020_2023del | ENSP00000263642.2:p.Arg674PhefsTer3 | |
| NM_022168.3:c.2020_2023del | NP_071451.2:p.Arg674PhefsTer3 | |
| XM_011511628.1:c.1303_1306del | XP_011509930.1:p.Arg435PhefsTer3 | |
| NM_022168.4:c.2020_2023del MANE Select | NP_071451.2:p.Arg674PhefsTer3 |