HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003935_47003950del , CM000681.2:g.47003935_47003950del | GRCh38 |
NC_000019.9:g.47507192_47507207del , CM000681.1:g.47507192_47507207del | GRCh37 |
NC_000019.8:g.52199032_52199047del | NCBI36 |
NG_047014.1:g.90369_90384del | |
NG_047014.2:g.147939_147954del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7747_7762del | ENSP00000385720.2:n.7747_7762del | |
ENST00000672722.1:c.*3247_*3262del MANE Select | ENSP00000500409.1:n.*3247_*3262del | |
ENST00000404338.7:c.7747_7762del | ENSP00000385720.2:n.7747_7762del | |
ENST00000614079.1:c.7324_7339del | ENSP00000483730.1:n.7324_7339del | |
NM_004491.4:c.7747_7762del | NP_004482.4:n.7747_7762del | |
NM_004491.5:c.*3247_*3262del MANE Select | NP_004482.4:n.*3247_*3262del |