HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003950_47003951insCAC , CM000681.2:g.47003950_47003951insCAC | GRCh38 |
NC_000019.9:g.47507207_47507208insCAC , CM000681.1:g.47507207_47507208insCAC | GRCh37 |
NC_000019.8:g.52199047_52199048insCAC | NCBI36 |
NG_047014.1:g.90384_90385insCAC | |
NG_047014.2:g.147954_147955insCAC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7762_7763insCAC | ENSP00000385720.2:n.7762_7763insCAC | |
ENST00000672722.1:c.*3262_*3263insCAC MANE Select | ENSP00000500409.1:n.*3262_*3263insCAC | |
ENST00000404338.7:c.7762_7763insCAC | ENSP00000385720.2:n.7762_7763insCAC | |
ENST00000614079.1:c.7339_7340insCAC | ENSP00000483730.1:n.7339_7340insCAC | |
NM_004491.4:c.7762_7763insCAC | NP_004482.4:n.7762_7763insCAC | |
NM_004491.5:c.*3262_*3263insCAC MANE Select | NP_004482.4:n.*3262_*3263insCAC |