Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354193_40354194delinsGA , CM000666.2:g.40354193_40354194delinsGA | GRCh38 |
| NC_000004.11:g.40356210_40356211delinsGA , CM000666.1:g.40356210_40356211delinsGA | GRCh37 |
| NC_000004.10:g.40050967_40050968delinsGA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1113_1114delinsGA MANE Select | ENSP00000312663.2:p.Thr371= | |
| ENST00000310169.2:c.1113_1114delinsGA | ENSP00000312663.2:p.Thr371= | |
| NM_017581.3:c.1113_1114delinsGA | NP_060051.2:p.Thr371= | |
| NM_017581.4:c.1113_1114delinsGA MANE Select | NP_060051.2:p.Thr371= |