Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116958_19116974del , CM000669.2:g.19116958_19116974del | GRCh38 |
| NC_000007.13:g.19156581_19156597del , CM000669.1:g.19156581_19156597del | GRCh37 |
| NC_000007.12:g.19123106_19123122del | NCBI36 |
| NG_008114.1:g.5699_5715del | |
| NG_008114.2:g.5699_5715del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.348_364del MANE Select | ENSP00000242261.5:p.Glu117ValfsTer? | |
| ENST00000242261.5:c.348_364del | ENSP00000242261.5:p.Glu117ValfsTer? | |
| ENST00000354571.5:c.145_161del | ||
| NM_000474.3:c.348_364del | NP_000465.1:p.Glu117ValfsTer? | |
| XM_011515496.1:c.348_364del | XP_011513798.1:p.Glu117ValfsTer? | |
| NR_149001.1:n.699_715del | ||
| NM_000474.4:c.348_364del MANE Select | NP_000465.1:p.Glu117ValfsTer? | |
| NR_149001.2:n.663_679del |