gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001962 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00001663 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44065510del , CM000669.2:g.44065510del | GRCh38 |
| NC_000007.13:g.44105109del , CM000669.1:g.44105109del | GRCh37 |
| NC_000007.12:g.44071634del | NCBI36 |
| NG_013016.1:g.5078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297283.4:c.20del (PGAM2) MANE Select | ENSP00000297283.3:p.Val7GlyfsTer24 | |
| ENST00000448521.6:c.*4594del (DBNL) MANE Select | ENSP00000411701.1:n.*4594del | |
| ENST00000297283.3:c.20del (PGAM2) | ENSP00000297283.3:p.Val7GlyfsTer24 | |
| ENST00000432854.5:c.5672del (DBNL) | ||
| NM_000290.3:c.20del (PGAM2) | NP_000281.2:p.Val7GlyfsTer24 | |
| XM_011515426.1:c.20del (PGAM2) | XP_011513728.1:p.Val7GlyfsTer24 | |
| XR_927214.1:n.83del | ||
| XR_927215.1:n.82del | ||
| XR_927216.1:n.83del | ||
| XR_927217.1:n.83del | ||
| XR_927218.1:n.83del | ||
| NM_000290.4:c.20del (PGAM2) MANE Select | NP_000281.2:p.Val7GlyfsTer24 | |
| NM_001014436.3:c.*4594del (DBNL) MANE Select | NP_001014436.1:n.*4594del | |
| NM_001122956.2:c.*4594del (DBNL) | NP_001116428.1:n.*4594del | |
| NM_001284313.2:c.*4594del (DBNL) | NP_001271242.1:n.*4594del | |
| NM_001362723.2:c.*4594del (DBNL) | NP_001349652.1:n.*4594del | |
| NM_014063.7:c.*4594del (DBNL) | NP_054782.2:n.*4594del | |
| NM_001284315.2:c.*4594del (DBNL) | NP_001271244.1:n.*4594del |