Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611579_1611589del , CM000668.2:g.1611579_1611589del | GRCh38 |
| NC_000006.11:g.1611814_1611824del , CM000668.1:g.1611814_1611824del | GRCh37 |
| NC_000006.10:g.1556813_1556823del | NCBI36 |
| NG_009368.1:g.6134_6144del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001453.3:c.1134_1144del MANE Select | NP_001444.2:p.Gly380ArgfsTer? |
| ENST00000645831.2:c.1134_1144del MANE Select | ENSP00000493906.1:p.Gly380ArgfsTer? |
| NM_001453.2:c.1134_1144del | NP_001444.2:p.Gly380ArgfsTer? |
| ENST00000380874.3:c.1134_1144del | ENSP00000370256.2:p.Gly380ArgfsTer? |