Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668127_86668130delinsTATC , CM000670.2:g.86668127_86668130delinsTATC | GRCh38 |
| NC_000008.10:g.87680355_87680358delinsTATC , CM000670.1:g.87680355_87680358delinsTATC | GRCh37 |
| NC_000008.9:g.87749471_87749474delinsTATC | NCBI36 |
| NG_016980.1:g.80546_80549delinsGATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.532_535delinsGATA MANE Select | ENSP00000316605.5:p.Asp178= | |
| ENST00000681746.1:c.532_535delinsGATA | ENSP00000505959.1:p.Asp178= | |
| ENST00000320005.5:c.532_535delinsGATA | ENSP00000316605.5:p.Asp178= | |
| NM_019098.4:c.532_535delinsGATA | NP_061971.3:p.Asp178= | |
| XM_011517138.1:c.118_121delinsGATA | XP_011515440.1:p.Asp40= | |
| XM_011517138.2:c.118_121delinsGATA | XP_011515440.1:p.Asp40= | |
| NM_019098.5:c.532_535delinsGATA MANE Select | NP_061971.3:p.Asp178= |