gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186581393del , CM000665.2:g.186581393del | GRCh38 |
| NC_000003.11:g.186299182del , CM000665.1:g.186299182del | GRCh37 |
| NC_000003.10:g.187781876del | NCBI36 |
| NG_034024.1:g.15718del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265028.8:c.479del MANE Select | ENSP00000265028.3:p.Ala160GlufsTer28 | |
| ENST00000464877.2:n.4247del | ||
| ENST00000495390.2:n.4247del | ||
| ENST00000679794.1:n.206del | ||
| ENST00000680338.1:c.*210del | ENSP00000505624.1:n.*210del | |
| ENST00000681475.1:n.91del | ||
| ENST00000681543.1:n.1222del | ||
| ENST00000265028.7:c.479del | ENSP00000265028.3:p.Ala160GlufsTer28 | |
| ENST00000439351.5:c.479del | ENSP00000414398.1:p.Ala160GlufsTer28 | |
| ENST00000495390.1:n.3096del | ||
| NM_016306.5:c.479del | NP_057390.1:p.Ala160GlufsTer28 | |
| NM_001378451.1:c.324-602del | NP_001365380.1:n.324-602del | |
| NM_016306.6:c.479del MANE Select | NP_057390.1:p.Ala160GlufsTer28 | |
| NR_165638.1:n.653del | ||
| NR_165639.1:n.657del | ||
| NR_165640.1:n.740del | ||
| NR_165641.1:n.625del | ||
| NR_165642.1:n.635-602del | ||
| NR_165643.1:n.607del |