Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527283_48527284del , CM000685.2:g.48527283_48527284del | GRCh38 |
| NC_000023.10:g.48385671_48385672del , CM000685.1:g.48385671_48385672del | GRCh37 |
| NC_000023.9:g.48270615_48270616del | NCBI36 |
| NG_007452.1:g.10508_10509del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.467_468del MANE Select | ENSP00000417052.1:p.Val156GlyfsTer? | |
| ENST00000651615.1:c.467_468del | ENSP00000498524.1:p.Val156GlyfsTer13 | |
| ENST00000276096.10:n.425_426del | ||
| ENST00000446158.5:c.467_468del | ENSP00000390031.1:p.Val156GlyfsTer? | |
| ENST00000466461.1:n.306_307del | ||
| ENST00000495186.5:c.467_468del | ENSP00000417052.1:p.Val156GlyfsTer? | |
| ENST00000498425.1:n.588_589del | ||
| NM_006579.2:c.467_468del | NP_006570.1:p.Val156GlyfsTer? | |
| NM_006579.3:c.467_468del MANE Select | NP_006570.1:p.Val156GlyfsTer? |