HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320829_119320830insCATGA , CM000666.2:g.119320829_119320830insCATGA | GRCh38 |
NC_000004.11:g.120241984_120241985insCATGA , CM000666.1:g.120241984_120241985insCATGA | GRCh37 |
NC_000004.10:g.120461432_120461433insCATGA | NCBI36 |
NG_011444.1:g.6332_6333insTCATG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274024.4:c.80_81insTCATG MANE Select | ENSP00000274024.3:p.Lys28HisfsTer12 | |
ENST00000274024.3:c.80_81insTCATG | ENSP00000274024.3:p.Lys28HisfsTer12 | |
NM_000134.3:c.80_81insTCATG | NP_000125.2:p.Lys28HisfsTer12 | |
NM_000134.4:c.80_81insTCATG MANE Select | NP_000125.2:p.Lys28HisfsTer12 |