Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924280del , CM000675.2:g.27924280del | GRCh38 |
| NC_000013.10:g.28498417del , CM000675.1:g.28498417del | GRCh37 |
| NC_000013.9:g.27396417del | NCBI36 |
| NG_008183.1:g.9250del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.431del MANE Select | ENSP00000370421.4:p.Glu144GlyfsTer16 | |
| ENST00000381033.4:c.431del | ENSP00000370421.4:p.Glu144GlyfsTer16 | |
| NM_000209.3:c.431del | NP_000200.1:p.Glu144GlyfsTer16 | |
| XR_941578.1:n.3558del | ||
| XR_941579.1:n.2157del | ||
| XR_941580.1:n.1073del | ||
| XR_941578.2:n.3570del | ||
| XR_941580.2:n.1085del | ||
| NM_000209.4:c.431del MANE Select | NP_000200.1:p.Glu144GlyfsTer16 |