Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415233_23415234delinsTC , CM000676.2:g.23415233_23415234delinsTC | GRCh38 |
| NC_000014.8:g.23884442_23884443delinsTC , CM000676.1:g.23884442_23884443delinsTC | GRCh37 |
| NC_000014.7:g.22954282_22954283delinsTC | NCBI36 |
| NG_007884.1:g.25428_25429delinsGA , LRG_384:g.25428_25429delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5320_5321delinsGA MANE Select | ENSP00000347507.3:p.Asp1774= | |
| ENST00000355349.3:c.5320_5321delinsGA | ENSP00000347507.3:p.Asp1774= | |
| NM_000257.3:c.5320_5321delinsGA | NP_000248.2:p.Asp1774= | |
| XM_017021340.1:c.5320_5321delinsGA | XP_016876829.1:p.Asp1774= | |
| NM_000257.4:c.5320_5321delinsGA MANE Select | NP_000248.2:p.Asp1774= |