Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370723_34370724delinsAC , CM000683.2:g.34370723_34370724delinsAC | GRCh38 |
| NC_000021.8:g.35743022_35743023delinsAC , CM000683.1:g.35743022_35743023delinsAC | GRCh37 |
| NC_000021.7:g.34664892_34664893delinsAC | NCBI36 |
| NG_008804.1:g.11700_11701delinsAC , LRG_291:g.11700_11701delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.245_246delinsAC MANE Select | ENSP00000290310.2:p.Asp82= | |
| ENST00000290310.3:c.245_246delinsAC | ENSP00000290310.2:p.Asp82= | |
| NM_172201.1:c.245_246delinsAC , LRG_291t1:c.245_246delinsAC | NP_751951.1:p.Asp82= | |
| XR_937683.1:n.597_598delinsGT | ||
| XR_937684.1:n.597_598delinsGT | ||
| XR_001755012.2:n.718_719delinsGT | ||
| XR_001755013.2:n.597_598delinsGT | ||
| XR_937683.2:n.597_598delinsGT | ||
| NM_172201.2:c.245_246delinsAC MANE Select | NP_751951.1:p.Asp82= |