Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240872990delinsACTGGAGG , CM000664.2:g.240872990delinsACTGGAGG | GRCh38 |
| NC_000002.11:g.241812407delinsACTGGAGG , CM000664.1:g.241812407delinsACTGGAGG | GRCh37 |
| NC_000002.10:g.241461080delinsACTGGAGG | NCBI36 |
| NG_008005.1:g.9246delinsACTGGAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.536delinsACTGGAGG MANE Select | ENSP00000302620.3:p.Leu179HisfsTer? | |
| ENST00000307503.3:c.536delinsACTGGAGG | ENSP00000302620.3:p.Leu179HisfsTer? | |
| ENST00000472436.1:n.556delinsACTGGAGG | ||
| ENST00000476698.1:n.273delinsACTGGAGG | ||
| NM_000030.2:c.536delinsACTGGAGG | NP_000021.1:p.Leu179HisfsTer? | |
| NM_000030.3:c.536delinsACTGGAGG MANE Select | NP_000021.1:p.Leu179HisfsTer? |