Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622766_10622767delinsTC , CM000670.2:g.10622766_10622767delinsTC | GRCh38 |
| NC_000008.10:g.10480276_10480277delinsTC , CM000670.1:g.10480276_10480277delinsTC | GRCh37 |
| NC_000008.9:g.10517686_10517687delinsTC | NCBI36 |
| NG_028035.1:g.37341_37342delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.435_436delinsGA MANE Select | ENSP00000371923.3:p.Arg145= | |
| ENST00000329335.3:n.685_686delinsGA | ||
| ENST00000382483.3:c.435_436delinsGA | ENSP00000371923.3:p.Arg145= | |
| NM_178857.5:c.435_436delinsGA | NP_849188.4:p.Arg145= | |
| NM_178857.6:c.435_436delinsGA MANE Select | NP_849188.4:p.Arg145= |