Canonical Allele Identifier: CA2814738195

Genomic Alleles

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

Transcript Alleles

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