Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189324_20189325delinsCG , CM000675.2:g.20189324_20189325delinsCG | GRCh38 |
| NC_000013.10:g.20763463_20763464delinsCG , CM000675.1:g.20763463_20763464delinsCG | GRCh37 |
| NC_000013.9:g.19661463_19661464delinsCG | NCBI36 |
| NG_008358.1:g.8651_8652delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.257_258delinsCG | ENSP00000372295.1:p.Thr86= | |
| ENST00000382848.5:c.257_258delinsCG MANE Select | ENSP00000372299.4:p.Thr86= | |
| ENST00000382844.1:c.257_258delinsCG | ENSP00000372295.1:p.Thr86= | |
| ENST00000382848.4:c.257_258delinsCG | ENSP00000372299.4:p.Thr86= | |
| NM_004004.5:c.257_258delinsCG | NP_003995.2:p.Thr86= | |
| XM_011535049.1:c.257_258delinsCG | XP_011533351.1:p.Thr86= | |
| XM_011535049.2:c.257_258delinsCG | XP_011533351.1:p.Thr86= | |
| NM_004004.6:c.257_258delinsCG MANE Select | NP_003995.2:p.Thr86= |