Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380058del , CM000675.2:g.48380058del | GRCh38 |
| NC_000013.10:g.48954194del , CM000675.1:g.48954194del | GRCh37 |
| NC_000013.9:g.47852195del | NCBI36 |
| NG_009009.1:g.81312del , LRG_517:g.81312del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1395del MANE Select | ENSP00000267163.4:p.Glu466AsnfsTer12 | |
| ENST00000650461.1:c.1395del | ENSP00000497193.1:p.Glu466AsnfsTer12 | |
| ENST00000267163.4:c.1395del | ENSP00000267163.4:p.Glu466AsnfsTer12 | |
| NM_000321.2:c.1395del , LRG_517t1:c.1395del | NP_000312.2:p.Glu466AsnfsTer12 | |
| XM_011535171.1:c.1134del | XP_011533473.1:p.Glu379AsnfsTer12 | |
| XM_011535171.2:c.1134del | XP_011533473.1:p.Glu379AsnfsTer12 | |
| NM_000321.3:c.1395del MANE Select | NP_000312.2:p.Glu466AsnfsTer12 |