HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003951_47003952insCACAC , CM000681.2:g.47003951_47003952insCACAC | GRCh38 |
NC_000019.9:g.47507208_47507209insCACAC , CM000681.1:g.47507208_47507209insCACAC | GRCh37 |
NC_000019.8:g.52199048_52199049insCACAC | NCBI36 |
NG_047014.1:g.90385_90386insCACAC | |
NG_047014.2:g.147955_147956insCACAC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7763_7764insCACAC | ENSP00000385720.2:n.7763_7764insCACAC | |
ENST00000672722.1:c.*3263_*3264insCACAC MANE Select | ENSP00000500409.1:n.*3263_*3264insCACAC | |
ENST00000404338.7:c.7763_7764insCACAC | ENSP00000385720.2:n.7763_7764insCACAC | |
ENST00000614079.1:c.7340_7341insCACAC | ENSP00000483730.1:n.7340_7341insCACAC | |
NM_004491.4:c.7763_7764insCACAC | NP_004482.4:n.7763_7764insCACAC | |
NM_004491.5:c.*3263_*3264insCACAC MANE Select | NP_004482.4:n.*3263_*3264insCACAC |