Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6022792_6022793delinsCA , CM000674.2:g.6022792_6022793delinsCA | GRCh38 |
| NC_000012.11:g.6131958_6131959delinsCA , CM000674.1:g.6131958_6131959delinsCA | GRCh37 |
| NC_000012.10:g.6002219_6002220delinsCA | NCBI36 |
| NG_009072.1:g.106878_106879delinsTG | |
| NG_009072.2:g.106878_106879delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3485_3486delinsTG MANE Select | ENSP00000261405.5:p.Pro1162Leu | |
| ENST00000261405.9:c.3485_3486delinsTG | ENSP00000261405.5:p.Pro1162Leu | |
| ENST00000538635.5:n.421-28859_421-28858delinsTG | ||
| NM_000552.3:c.3485_3486delinsTG | NP_000543.2:p.Pro1162Leu | |
| NM_000552.4:c.3485_3486delinsTG | NP_000543.2:p.Pro1162Leu | |
| NM_000552.5:c.3485_3486delinsTG MANE Select | NP_000543.3:p.Pro1162Leu |