Canonical Allele Identifier: CA2341080478

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791784_50791785delinsGC , CM000681.2:g.50791784_50791785delinsGC GRCh38
NC_000019.9:g.51295041_51295042delinsGC , CM000681.1:g.51295041_51295042delinsGC GRCh37
NC_000019.8:g.55986853_55986854delinsGC NCBI36
NG_052652.1:g.6370_6371delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.432_433delinsGC (ACP4) MANE Select ENSP00000270593.1:p.Val144=
ENST00000636757.1:c.-60+620_-60+621delinsGC (SMIM47) ENSP00000489695.1:n.-60+620_-60+621delinsGC
ENST00000270593.1:c.432_433delinsGC (ACP4) ENSP00000270593.1:p.Val144=
NM_033068.2:c.432_433delinsGC (ACP4) NP_149059.1:p.Val144=
XR_936026.1:n.424+620_424+621delinsGC
XR_936026.2:n.434+620_434+621delinsGC
NM_033068.3:c.432_433delinsGC (ACP4) MANE Select NP_149059.1:p.Val144=