Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123265319del , CM000668.2:g.123265319del | GRCh38 |
| NC_000006.11:g.123586464del , CM000668.1:g.123586464del | GRCh37 |
| NC_000006.10:g.123628163del | NCBI36 |
| NG_030438.1:g.376776del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1804del MANE Select | NP_006064.2:p.Gly603GlufsTer26 |
| ENST00000334268.9:c.1804del MANE Select | ENSP00000333984.5:p.Gly603GlufsTer26 |
| NM_006073.3:c.1804del | NP_006064.2:p.Gly603GlufsTer26 |
| ENST00000334268.8:c.1804del | ENSP00000333984.5:p.Gly603GlufsTer26 |
| XM_011535382.1:c.1723del | XP_011533684.1:p.Gly576GlufsTer26 |