HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4933888_4933924del , CM000679.2:g.4933888_4933924del | GRCh38 |
NC_000017.10:g.4837183_4837219del , CM000679.1:g.4837183_4837219del | GRCh37 |
NG_008767.2:g.6594_6630del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329125.6:c.1284_1320del (GP1BA) MANE Select | ENSP00000329380.5:p.Glu429GlnfsTer? | |
ENST00000649830.1:c.-888+419_-888+455del (CHRNE) | ENSP00000496907.1:n.-888+419_-888+455del | |
ENST00000329125.5:c.1284_1320del (GP1BA) | ENSP00000329380.5:p.Glu429GlnfsTer? | |
ENST00000611961.1:c.1272+12_1273-31del (GP1BA) | ENSP00000484439.1:n.1272+12_1273-31del | |
NM_000173.6:c.1284_1320del (GP1BA) | NP_000164.5:p.Glu429GlnfsTer? | |
NM_000173.7:c.1284_1320del (GP1BA) MANE Select | NP_000164.5:p.Glu429GlnfsTer? |