HGVS | Genome Assembly |
---|---|
NC_000019.10:g.50791845_50791846dup , CM000681.2:g.50791845_50791846dup | GRCh38 |
NC_000019.9:g.51295102_51295103dup , CM000681.1:g.51295102_51295103dup | GRCh37 |
NC_000019.8:g.55986914_55986915dup | NCBI36 |
NG_052652.1:g.6431_6432dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270593.2:c.450+43_450+44dup (ACP4) MANE Select | ENSP00000270593.1:n.450+43_450+44dup | |
ENST00000636757.1:c.-60+559_-60+560dup (SMIM47) | ENSP00000489695.1:n.-60+559_-60+560dup | |
ENST00000270593.1:c.450+43_450+44dup (ACP4) | ENSP00000270593.1:n.450+43_450+44dup | |
NM_033068.2:c.450+43_450+44dup (ACP4) | NP_149059.1:n.450+43_450+44dup | |
XR_936026.1:n.424+559_424+560dup | ||
XR_936026.2:n.434+559_434+560dup | ||
NM_033068.3:c.450+43_450+44dup (ACP4) MANE Select | NP_149059.1:n.450+43_450+44dup |