HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8076580_8076587del , CM000679.2:g.8076580_8076587del | GRCh38 |
NC_000017.10:g.7979898_7979905del , CM000679.1:g.7979898_7979905del | GRCh37 |
NC_000017.9:g.7920623_7920630del | NCBI36 |
NG_007099.1:g.16117_16124del | |
NG_007099.2:g.16130_16137del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1362+70_1362+77del MANE Select | ENSP00000497784.1:n.1362+70_1362+77del | |
ENST00000649809.1:c.426+70_426+77del | ENSP00000496845.1:n.426+70_426+77del | |
ENST00000319144.4:c.1362+70_1362+77del | ENSP00000315167.4:n.1362+70_1362+77del | |
ENST00000577351.5:n.309+70_309+77del | ||
ENST00000583276.5:n.746+70_746+77del | ||
ENST00000584116.1:n.618+70_618+77del | ||
NM_001139.2:c.1362+70_1362+77del | NP_001130.1:n.1362+70_1362+77del | |
NM_001139.3:c.1362+70_1362+77del MANE Select | NP_001130.1:n.1362+70_1362+77del |