HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003947_47003948insGCAC , CM000681.2:g.47003947_47003948insGCAC | GRCh38 |
NC_000019.9:g.47507204_47507205insGCAC , CM000681.1:g.47507204_47507205insGCAC | GRCh37 |
NC_000019.8:g.52199044_52199045insGCAC | NCBI36 |
NG_047014.1:g.90381_90382insGCAC | |
NG_047014.2:g.147951_147952insGCAC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7759_7760insGCAC | ENSP00000385720.2:n.7759_7760insGCAC | |
ENST00000672722.1:c.*3259_*3260insGCAC MANE Select | ENSP00000500409.1:n.*3259_*3260insGCAC | |
ENST00000404338.7:c.7759_7760insGCAC | ENSP00000385720.2:n.7759_7760insGCAC | |
ENST00000614079.1:c.7336_7337insGCAC | ENSP00000483730.1:n.7336_7337insGCAC | |
NM_004491.4:c.7759_7760insGCAC | NP_004482.4:n.7759_7760insGCAC | |
NM_004491.5:c.*3259_*3260insGCAC MANE Select | NP_004482.4:n.*3259_*3260insGCAC |