Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173171_173172delinsGA , CM000678.2:g.173171_173172delinsGA | GRCh38 |
| NC_000016.9:g.223170_223171delinsGA , CM000678.1:g.223170_223171delinsGA | GRCh37 |
| NC_000016.8:g.163170_163171delinsGA | NCBI36 |
| NG_000006.1:g.34034_34035delinsGA | |
| NG_059186.1:g.1521_1522delinsGA | |
| NG_059271.1:g.5325_5326delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.142_143delinsGA MANE Select | ENSP00000251595.6:p.Asp48= | |
| ENST00000251595.10:c.142_143delinsGA | ENSP00000251595.6:p.Asp48= | |
| ENST00000397806.1:c.46_47delinsGA | ENSP00000380908.1:p.Asp16= | |
| ENST00000482565.1:n.278_279delinsGA | ||
| ENST00000484216.1:n.111_112delinsGA | ||
| NM_000517.4:c.142_143delinsGA | NP_000508.1:p.Asp48= | |
| NM_000517.6:c.142_143delinsGA MANE Select | NP_000508.1:p.Asp48= |