Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852811_102852819delinsTCACGGTTC , CM000674.2:g.102852811_102852819delinsTCACGGTTC | GRCh38 |
| NC_000012.11:g.103246589_103246597delinsTCACGGTTC , CM000674.1:g.103246589_103246597delinsTCACGGTTC | GRCh37 |
| NC_000012.10:g.101770719_101770727delinsTCACGGTTC | NCBI36 |
| NG_008690.1:g.69784_69792delinsGAACCGTGA | |
| NG_008690.2:g.110592_110600delinsGAACCGTGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.838_842+4delinsGAACCGTGA | ||
| ENST00000307000.7:c.823_827+4delinsGAACCGTGA | ||
| ENST00000549247.6:n.597_601+4delinsGAACCGTGA | ||
| ENST00000553106.5:c.838_842+4delinsGAACCGTGA | ||
| NM_000277.1:c.838_842+4delinsGAACCGTGA | ||
| XM_011538422.1:c.838_842+4delinsGAACCGTGA | ||
| NM_000277.2:c.838_842+4delinsGAACCGTGA | ||
| NM_001354304.1:c.838_842+4delinsGAACCGTGA | ||
| NM_000277.3:c.838_842+4delinsGAACCGTGA | ||
| NM_001354304.2:c.838_842+4delinsGAACCGTGA |