HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199428_137199430del , CM000671.2:g.137199428_137199430del | GRCh38 |
NC_000009.11:g.140093880_140093882del , CM000671.1:g.140093880_140093882del | GRCh37 |
NC_000009.10:g.139213701_139213703del | NCBI36 |
NG_027801.1:g.6286_6288del | |
NG_027801.2:g.9768_9770del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1286_1288del MANE Select | ENSP00000387100.4:p.Glu429del | |
ENST00000333046.8:c.680_682del | ENSP00000327617.4:p.Glu227del | |
ENST00000409012.4:c.1286_1288del | ENSP00000387100.4:p.Glu429del | |
ENST00000541945.1:n.90+4678_90+4680del | ||
NM_001128228.2:c.1286_1288del | NP_001121700.2:p.Glu429del | |
NM_001128228.3:c.1286_1288del MANE Select | NP_001121700.2:p.Glu429del |