Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174687_21174688insAGT , CM000674.2:g.21174687_21174688insAGT | GRCh38 |
| NC_000012.11:g.21327621_21327622insAGT , CM000674.1:g.21327621_21327622insAGT | GRCh37 |
| NC_000012.10:g.21218888_21218889insAGT | NCBI36 |
| NG_011745.1:g.48494_48495insAGT , LRG_1022:g.48494_48495insAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.337_338insAGT MANE Select | ENSP00000256958.2:p.Leu113Ter | |
| ENST00000256958.2:c.337_338insAGT | ENSP00000256958.2:p.Leu113Ter | |
| ENST00000543498.5:c.426-2089_426-2088insAGT | ||
| NM_006446.4:c.337_338insAGT , LRG_1022t1:c.337_338insAGT | NP_006437.3:p.Leu113Ter | |
| NM_006446.5:c.337_338insAGT MANE Select | NP_006437.3:p.Leu113Ter |