Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093630_176093634delinsACCAG , CM000664.2:g.176093630_176093634delinsACCAG | GRCh38 |
| NC_000002.11:g.176958358_176958362delinsACCAG , CM000664.1:g.176958358_176958362delinsACCAG | GRCh37 |
| NC_000002.10:g.176666604_176666608delinsACCAG | NCBI36 |
| NG_008137.1:g.5827_5831delinsACCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.740_744delinsACCAG MANE Select | ENSP00000376322.3:p.Asp247= | |
| ENST00000392539.3:c.740_744delinsACCAG | ENSP00000376322.3:p.Asp247= | |
| NM_000523.3:c.740_744delinsACCAG | NP_000514.2:p.Asp247= | |
| XM_011511068.1:c.725-850_725-846delinsACCAG | XP_011509370.1:n.725-850_725-846delinsACCAG | |
| XM_011511068.2:c.725-850_725-846delinsACCAG | XP_011509370.1:n.725-850_725-846delinsACCAG | |
| NM_000523.4:c.740_744delinsACCAG MANE Select | NP_000514.2:p.Asp247= |