HGVS | Genome Assembly |
---|---|
NC_000019.10:g.50791836_50791839del , CM000681.2:g.50791836_50791839del | GRCh38 |
NC_000019.9:g.51295093_51295096del , CM000681.1:g.51295093_51295096del | GRCh37 |
NC_000019.8:g.55986905_55986908del | NCBI36 |
NG_052652.1:g.6422_6425del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270593.2:c.450+34_450+37del (ACP4) MANE Select | ENSP00000270593.1:n.450+34_450+37del | |
ENST00000636757.1:c.-60+573_-60+576del (SMIM47) | ENSP00000489695.1:n.-60+573_-60+576del | |
ENST00000270593.1:c.450+34_450+37del (ACP4) | ENSP00000270593.1:n.450+34_450+37del | |
NM_033068.2:c.450+34_450+37del (ACP4) | NP_149059.1:n.450+34_450+37del | |
XR_936026.1:n.424+573_424+576del | ||
XR_936026.2:n.434+573_434+576del | ||
NM_033068.3:c.450+34_450+37del (ACP4) MANE Select | NP_149059.1:n.450+34_450+37del |