Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35844142_35844143del , CM000681.2:g.35844142_35844143del | GRCh38 |
| NC_000019.9:g.36335044_36335045del , CM000681.1:g.36335044_36335045del | GRCh37 |
| NC_000019.8:g.41026884_41026885del | NCBI36 |
| NG_013356.2:g.30145_30146del , LRG_693:g.30145_30146del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.2172_2173del MANE Select | NP_004637.1:p.Glu725GlyfsTer25 |
| ENST00000378910.10:c.2172_2173del MANE Select | ENSP00000368190.4:p.Glu725GlyfsTer25 |
| NM_004646.3:c.2172_2173del , LRG_693t1:c.2172_2173del | NP_004637.1:p.Glu725GlyfsTer25 |
| ENST00000353632.6:c.2172_2173del | ENSP00000343634.5:p.Glu725GlyfsTer25 |
| ENST00000378910.9:c.2172_2173del | ENSP00000368190.4:p.Glu725GlyfsTer25 |
| ENST00000585400.1:n.354_355del |