Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189570_20189571delinsGC , CM000675.2:g.20189570_20189571delinsGC | GRCh38 |
| NC_000013.10:g.20763709_20763710delinsGC , CM000675.1:g.20763709_20763710delinsGC | GRCh37 |
| NC_000013.9:g.19661709_19661710delinsGC | NCBI36 |
| NG_008358.1:g.8405_8406delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.11_12delinsGC | ENSP00000372295.1:p.Gly4= | |
| ENST00000382848.5:c.11_12delinsGC MANE Select | ENSP00000372299.4:p.Gly4= | |
| ENST00000382844.1:c.11_12delinsGC | ENSP00000372295.1:p.Gly4= | |
| ENST00000382848.4:c.11_12delinsGC | ENSP00000372299.4:p.Gly4= | |
| NM_004004.5:c.11_12delinsGC | NP_003995.2:p.Gly4= | |
| XM_011535049.1:c.11_12delinsGC | XP_011533351.1:p.Gly4= | |
| XM_011535049.2:c.11_12delinsGC | XP_011533351.1:p.Gly4= | |
| NM_004004.6:c.11_12delinsGC MANE Select | NP_003995.2:p.Gly4= |