Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31663866del , CM000683.2:g.31663866del | GRCh38 |
| NC_000021.8:g.33036179del , CM000683.1:g.33036179del | GRCh37 |
| NC_000021.7:g.31958050del | NCBI36 |
| NG_008689.1:g.9245del , LRG_652:g.9245del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.149del MANE Select | NP_000445.1:p.Glu50GlyfsTer? |
| ENST00000270142.11:c.149del MANE Select | ENSP00000270142.7:p.Glu50GlyfsTer? |
| NM_000454.4:c.149del , LRG_652t1:c.149del | NP_000445.1:p.Glu50GlyfsTer? |
| ENST00000270142.10:c.149del | ENSP00000270142.6:p.Glu50GlyfsTer? |
| ENST00000389995.4:c.92del | ENSP00000374645.4:p.Glu31GlyfsTer? |
| ENST00000470944.1:n.1077del | |
| ENST00000476106.5:n.412del |