Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001944_94001948delinsGACC , CM000663.2:g.94001944_94001948delinsGACC | GRCh38 |
| NC_000001.10:g.94467500_94467504delinsGACC , CM000663.1:g.94467500_94467504delinsGACC | GRCh37 |
| NC_000001.9:g.94240088_94240092delinsGACC | NCBI36 |
| NG_009073.1:g.124202_124206delinsGGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6192_6196delinsGGTC MANE Select | ENSP00000359245.3:p.Asp2065ValfsTer? | |
| ENST00000370225.3:c.6192_6196delinsGGTC | ENSP00000359245.3:p.Asp2065ValfsTer? | |
| ENST00000465352.1:n.608_612delinsGGTC | ||
| ENST00000536513.5:c.2568_2572delinsGGTC | ENSP00000439707.2:p.Asp857ValfsTer? | |
| NM_000350.2:c.6192_6196delinsGGTC | NP_000341.2:p.Asp2065ValfsTer? | |
| NM_000350.3:c.6192_6196delinsGGTC MANE Select | NP_000341.2:p.Asp2065ValfsTer? |