HGVS | Genome Assembly |
---|---|
NC_000019.10:g.50791944_50791949del , CM000681.2:g.50791944_50791949del | GRCh38 |
NC_000019.9:g.51295201_51295206del , CM000681.1:g.51295201_51295206del | GRCh37 |
NC_000019.8:g.55987013_55987018del | NCBI36 |
NG_052652.1:g.6530_6535del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270593.2:c.451-129_451-124del (ACP4) MANE Select | ENSP00000270593.1:n.451-129_451-124del | |
ENST00000636757.1:c.-60+456_-60+461del (SMIM47) | ENSP00000489695.1:n.-60+456_-60+461del | |
ENST00000270593.1:c.451-129_451-124del (ACP4) | ENSP00000270593.1:n.451-129_451-124del | |
NM_033068.2:c.451-129_451-124del (ACP4) | NP_149059.1:n.451-129_451-124del | |
XR_936026.1:n.424+456_424+461del | ||
XR_936026.2:n.434+456_434+461del | ||
NM_033068.3:c.451-129_451-124del (ACP4) MANE Select | NP_149059.1:n.451-129_451-124del |