HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52038249_52038250insAG , CM000666.2:g.52038249_52038250insAG | GRCh38 |
NC_000004.11:g.52904415_52904416insAG , CM000666.1:g.52904415_52904416insAG | GRCh37 |
NC_000004.10:g.52599172_52599173insAG | NCBI36 |
NG_008891.1:g.5071_5072insTC , LRG_204:g.5071_5072insTC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.11_12insTC MANE Select | ENSP00000370839.6:p.Ala5ArgfsTer15 | |
ENST00000381431.9:c.11_12insTC | ENSP00000370839.5:p.Ala5ArgfsTer15 | |
NM_000232.4:c.11_12insTC , LRG_204t1:c.11_12insTC | NP_000223.1:p.Ala5ArgfsTer15 | |
XM_011534403.1:c.11_12insTC | XP_011532705.1:p.Ala5ArgfsTer9 | |
NM_000232.5:c.11_12insTC MANE Select | NP_000223.1:p.Ala5ArgfsTer15 |