Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873034del , CM000664.2:g.240873034del | GRCh38 |
| NC_000002.11:g.241812451del , CM000664.1:g.241812451del | GRCh37 |
| NC_000002.10:g.241461124del | NCBI36 |
| NG_008005.1:g.9290del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.580del MANE Select | ENSP00000302620.3:p.Tyr194ThrfsTer18 | |
| ENST00000307503.3:c.580del | ENSP00000302620.3:p.Tyr194ThrfsTer18 | |
| ENST00000472436.1:n.600del | ||
| ENST00000476698.1:n.317del | ||
| NM_000030.2:c.580del | NP_000021.1:p.Tyr194ThrfsTer18 | |
| NM_000030.3:c.580del MANE Select | NP_000021.1:p.Tyr194ThrfsTer18 |