gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46859499del , CM000665.2:g.46859499del | GRCh38 |
| NC_000003.11:g.46900989del , CM000665.1:g.46900989del | GRCh37 |
| NC_000003.10:g.46875993del | NCBI36 |
| NG_007555.2:g.27671del , LRG_395:g.27671del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.457del | ENSP00000393455.2:p.Leu153PhefsTer12 | |
| ENST00000292327.6:c.457del MANE Select | ENSP00000292327.4:p.Leu153PhefsTer12 | |
| ENST00000653454.1:c.457del | ENSP00000499624.1:p.Leu153PhefsTer12 | |
| ENST00000654597.1:c.457del | ENSP00000499406.1:p.Leu153PhefsTer12 | |
| ENST00000655244.1:n.679del | ||
| ENST00000662933.1:c.457del | ENSP00000499577.1:p.Leu153PhefsTer12 | |
| ENST00000664891.1:n.415del | ||
| ENST00000292327.4:c.457del | ENSP00000292327.4:p.Leu153PhefsTer12 | |
| ENST00000395869.5:c.457del | ENSP00000379210.1:p.Leu153PhefsTer12 | |
| NM_000258.2:c.457del , LRG_395t1:c.457del | NP_000249.1:p.Leu153PhefsTer12 | |
| NM_000258.3:c.457del MANE Select | NP_000249.1:p.Leu153PhefsTer12 |