HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176804_21176805insG , CM000674.2:g.21176804_21176805insG | GRCh38 |
NC_000012.11:g.21329738_21329739insG , CM000674.1:g.21329738_21329739insG | GRCh37 |
NC_000012.10:g.21221005_21221006insG | NCBI36 |
NG_011745.1:g.50611_50612insG , LRG_1022:g.50611_50612insG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000256958.3:c.388_389insG MANE Select | ENSP00000256958.2:p.Asn130ArgfsTer16 | |
ENST00000256958.2:c.388_389insG | ENSP00000256958.2:p.Asn130ArgfsTer16 | |
ENST00000543498.5:c.454_455insG | ||
NM_006446.4:c.388_389insG , LRG_1022t1:c.388_389insG | NP_006437.3:p.Asn130ArgfsTer16 | |
NM_006446.5:c.388_389insG MANE Select | NP_006437.3:p.Asn130ArgfsTer16 |