HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42536320_42536321delinsCG , CM000679.2:g.42536320_42536321delinsCG | GRCh38 |
NC_000017.10:g.40688338_40688339delinsCG , CM000679.1:g.40688338_40688339delinsCG | GRCh37 |
NC_000017.9:g.37941864_37941865delinsCG | NCBI36 |
NG_011552.1:g.5388_5389delinsCG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.48_49delinsCG MANE Select | ENSP00000225927.1:p.Ala16= | |
ENST00000225927.6:c.48_49delinsCG | ENSP00000225927.1:p.Ala16= | |
NM_000263.3:c.48_49delinsCG | NP_000254.2:p.Ala16= | |
XM_024450771.1:c.48_49delinsCG | XP_024306539.1:p.Ala16= | |
NM_000263.4:c.48_49delinsCG MANE Select | NP_000254.2:p.Ala16= |