HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8076592_8076593del , CM000679.2:g.8076592_8076593del | GRCh38 |
NC_000017.10:g.7979910_7979911del , CM000679.1:g.7979910_7979911del | GRCh37 |
NC_000017.9:g.7920635_7920636del | NCBI36 |
NG_007099.1:g.16111_16112del | |
NG_007099.2:g.16124_16125del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1362+64_1362+65del MANE Select | ENSP00000497784.1:n.1362+64_1362+65del | |
ENST00000649809.1:c.426+64_426+65del | ENSP00000496845.1:n.426+64_426+65del | |
ENST00000319144.4:c.1362+64_1362+65del | ENSP00000315167.4:n.1362+64_1362+65del | |
ENST00000577351.5:n.309+64_309+65del | ||
ENST00000583276.5:n.746+64_746+65del | ||
ENST00000584116.1:n.618+64_618+65del | ||
NM_001139.2:c.1362+64_1362+65del | NP_001130.1:n.1362+64_1362+65del | |
NM_001139.3:c.1362+64_1362+65del MANE Select | NP_001130.1:n.1362+64_1362+65del |