Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966658_154966659delinsTG , CM000685.2:g.154966658_154966659delinsTG | GRCh38 |
| NC_000023.10:g.154194933_154194934delinsTG , CM000685.1:g.154194933_154194934delinsTG | GRCh37 |
| NC_000023.9:g.153848127_153848128delinsTG | NCBI36 |
| NG_011403.1:g.61065_61066delinsCA | |
| NG_011403.2:g.61065_61066delinsCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1038_1039delinsCA MANE Select | ENSP00000353393.4:p.Asp346= | |
| ENST00000647125.1:c.*914_*915delinsCA | ENSP00000496062.1:n.*914_*915delinsCA | |
| ENST00000360256.8:c.1038_1039delinsCA | ENSP00000353393.4:p.Asp346= | |
| NM_000132.3:c.1038_1039delinsCA | NP_000123.1:p.Asp346= | |
| XM_011531126.1:c.933_934delinsCA | XP_011529428.1:p.Asp311= | |
| NM_000132.4:c.1038_1039delinsCA MANE Select | NP_000123.1:p.Asp346= |