HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322906del , CM000677.2:g.73322906del | GRCh38 |
NC_000015.9:g.73615247del , CM000677.1:g.73615247del | GRCh37 |
NC_000015.8:g.71402300del | NCBI36 |
NG_009063.1:g.51362del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3190del MANE Select | ENSP00000261917.3:p.Gln1064ArgfsTer? | |
ENST00000261917.3:c.3190del | ENSP00000261917.3:p.Gln1064ArgfsTer? | |
NM_005477.2:c.3190del | NP_005468.1:p.Gln1064ArgfsTer? | |
XM_011521148.1:c.1972del | XP_011519450.1:p.Gln658ArgfsTer? | |
XM_011521148.2:c.1972del | XP_011519450.1:p.Gln658ArgfsTer? | |
NM_005477.3:c.3190del MANE Select | NP_005468.1:p.Gln1064ArgfsTer? |