Canonical Allele Identifier: CA2586620232

Gene: ACP4 SMIM47

Linked Data

• gnomAD v4: 19-50791790-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791790_50791791insT , CM000681.2:g.50791790_50791791insT	GRCh38
NC_000019.9:g.51295047_51295048insT , CM000681.1:g.51295047_51295048insT	GRCh37
NC_000019.8:g.55986859_55986860insT	NCBI36
NG_052652.1:g.6376_6377insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.438_439insT (ACP4) MANE Select	ENSP00000270593.1:p.Ala147CysfsTer2
ENST00000636757.1:c.-60+614_-60+615insA (SMIM47)	ENSP00000489695.1:n.-60+614_-60+615insA
ENST00000270593.1:c.438_439insT (ACP4)	ENSP00000270593.1:p.Ala147CysfsTer2
NM_033068.2:c.438_439insT (ACP4)	NP_149059.1:p.Ala147CysfsTer2
XR_936026.1:n.424+614_424+615insA
XR_936026.2:n.434+614_434+615insA
NM_033068.3:c.438_439insT (ACP4) MANE Select	NP_149059.1:p.Ala147CysfsTer2