Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670266_68670267delinsCA , CM000666.2:g.68670266_68670267delinsCA | GRCh38 |
| NC_000004.11:g.69535984_69535985delinsCA , CM000666.1:g.69535984_69535985delinsCA | GRCh37 |
| NC_000004.10:g.69218579_69218580delinsCA | NCBI36 |
| NG_052676.1:g.5510_5511delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338206.6:c.352_353delinsTG MANE Select | ENSP00000341045.5:p.Trp118= | |
| ENST00000338206.5:c.352_353delinsTG | ENSP00000341045.5:p.Trp118= | |
| ENST00000616841.4:c.352_353delinsTG | ENSP00000482004.1:p.Trp118= | |
| NM_001076.3:c.352_353delinsTG | NP_001067.2:p.Trp118= | |
| NM_001076.4:c.352_353delinsTG MANE Select | NP_001067.2:p.Trp118= |