Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875956_240875960del , CM000664.2:g.240875956_240875960del | GRCh38 |
| NC_000002.11:g.241815373_241815377del , CM000664.1:g.241815373_241815377del | GRCh37 |
| NC_000002.10:g.241464046_241464050del | NCBI36 |
| NG_008005.1:g.12212_12216del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.798_802del MANE Select | ENSP00000302620.3:p.Ile267ProfsTer? | |
| ENST00000307503.3:c.798_802del | ENSP00000302620.3:p.Ile267ProfsTer? | |
| ENST00000476698.1:n.450_454del | ||
| NM_000030.2:c.798_802del | NP_000021.1:p.Ile267ProfsTer? | |
| NM_000030.3:c.798_802del MANE Select | NP_000021.1:p.Ile267ProfsTer? |