HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612168_41612175del , CM000679.2:g.41612168_41612175del | GRCh38 |
NC_000017.10:g.39768420_39768427del , CM000679.1:g.39768420_39768427del | GRCh37 |
NC_000017.9:g.37021946_37021953del | NCBI36 |
NG_008301.1:g.5658_5665del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.519_526del MANE Select | ENSP00000301653.3:p.Asp173GlufsTer9 | |
ENST00000301653.8:c.519_526del | ENSP00000301653.3:p.Asp173GlufsTer9 | |
ENST00000588319.1:n.596_603del | ||
ENST00000593067.1:c.-196_-189del | ENSP00000467124.1:n.-196_-189del | |
NM_005557.3:c.519_526del | NP_005548.2:p.Asp173GlufsTer9 | |
NM_005557.4:c.519_526del MANE Select | NP_005548.2:p.Asp173GlufsTer9 |