HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003991_47003992del , CM000681.2:g.47003991_47003992del | GRCh38 |
NC_000019.9:g.47507248_47507249del , CM000681.1:g.47507248_47507249del | GRCh37 |
NC_000019.8:g.52199088_52199089del | NCBI36 |
NG_047014.1:g.90425_90426del | |
NG_047014.2:g.147995_147996del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7803_7804del | ENSP00000385720.2:n.7803_7804del | |
ENST00000672722.1:c.*3303_*3304del MANE Select | ENSP00000500409.1:n.*3303_*3304del | |
ENST00000404338.7:c.7803_7804del | ENSP00000385720.2:n.7803_7804del | |
ENST00000614079.1:c.7380_7381del | ENSP00000483730.1:n.7380_7381del | |
NM_004491.4:c.7803_7804del | NP_004482.4:n.7803_7804del | |
NM_004491.5:c.*3303_*3304del MANE Select | NP_004482.4:n.*3303_*3304del |