Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013656_25013659delinsCGCT , CM000685.2:g.25013656_25013659delinsCGCT | GRCh38 |
| NC_000023.10:g.25031773_25031776delinsCGCT , CM000685.1:g.25031773_25031776delinsCGCT | GRCh37 |
| NC_000023.9:g.24941694_24941697delinsCGCT | NCBI36 |
| NG_008281.1:g.7290_7293delinsAGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.336_339delinsAGCG MANE Select | ENSP00000368332.4:p.Ala112= | |
| ENST00000379044.4:c.336_339delinsAGCG | ENSP00000368332.4:p.Ala112= | |
| NM_139058.2:c.336_339delinsAGCG | NP_620689.1:p.Ala112= | |
| NM_139058.3:c.336_339delinsAGCG MANE Select | NP_620689.1:p.Ala112= |