Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646753_68646754delinsAT , CM000666.2:g.68646753_68646754delinsAT | GRCh38 |
| NC_000004.11:g.69512471_69512472delinsAT , CM000666.1:g.69512471_69512472delinsAT | GRCh37 |
| NC_000004.10:g.69195066_69195067delinsAT | NCBI36 |
| NG_052676.1:g.29023_29024delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*350_*351delinsAT MANE Select | ENSP00000341045.5:n.*350_*351delinsAT | |
| ENST00000338206.5:c.*350_*351delinsAT | ENSP00000341045.5:n.*350_*351delinsAT | |
| ENST00000616841.4:c.1732+211_1732+212delinsAT | ENSP00000482004.1:n.1732+211_1732+212delinsAT | |
| NM_001076.3:c.*350_*351delinsAT | NP_001067.2:n.*350_*351delinsAT | |
| NM_001076.4:c.*350_*351delinsAT MANE Select | NP_001067.2:n.*350_*351delinsAT |