gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3494076del , CM000681.2:g.3494076del | GRCh38 |
| NC_000019.9:g.3494074del , CM000681.1:g.3494074del | GRCh37 |
| NC_000019.8:g.3445074del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427575.6:c.304del MANE Select | ENSP00000398882.1:p.Glu102LysfsTer6 | |
| ENST00000671696.1:c.158del | ||
| ENST00000672935.1:c.304del | ENSP00000500806.1:p.Glu102LysfsTer6 | |
| ENST00000673168.1:n.97del | ||
| ENST00000250937.7:c.304del | ENSP00000250937.2:p.Glu102LysfsTer6 | |
| ENST00000427575.5:c.304del | ENSP00000398882.1:p.Glu102LysfsTer6 | |
| ENST00000586906.1:n.97del | ||
| ENST00000587122.1:c.158del | ||
| ENST00000592858.5:c.304del | ENSP00000464905.1:p.Glu102LysfsTer6 | |
| NM_001145165.1:c.304del | NP_001138637.1:p.Glu102LysfsTer6 | |
| NM_031304.4:c.304del | NP_112594.1:p.Glu102LysfsTer6 | |
| XM_011528340.1:c.304del | XP_011526642.1:p.Glu102LysfsTer6 | |
| XM_011528341.1:c.304del | XP_011526643.1:p.Glu102LysfsTer6 | |
| XM_011528341.2:c.304del | XP_011526643.1:p.Glu102LysfsTer6 | |
| NM_001145165.2:c.304del MANE Select | NP_001138637.1:p.Glu102LysfsTer6 | |
| NM_031304.5:c.304del | NP_112594.1:p.Glu102LysfsTer6 |