Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30314133_30314134insACTC , CM000672.2:g.30314133_30314134insACTC | GRCh38 |
| NC_000010.10:g.30603062_30603063insACTC , CM000672.1:g.30603062_30603063insACTC | GRCh37 |
| NC_000010.9:g.30643068_30643069insACTC | NCBI36 |
| NG_028096.1:g.40205_40206insGAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1387-163_1387-162insGAGT MANE Select | ENSP00000263063.3:n.1387-163_1387-162insGAGT | |
| ENST00000263063.8:c.1387-163_1387-162insGAGT | ENSP00000263063.3:n.1387-163_1387-162insGAGT | |
| ENST00000488290.5:n.3142-163_3142-162insGAGT | ||
| NM_018109.3:c.1387-163_1387-162insGAGT | NP_060579.3:n.1387-163_1387-162insGAGT | |
| NM_018109.4:c.1387-163_1387-162insGAGT MANE Select | NP_060579.3:n.1387-163_1387-162insGAGT |