Canonical Allele Identifier: CA2576866553

Gene: ACP4 SMIM47

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791780_50791783del , CM000681.2:g.50791780_50791783del	GRCh38
NC_000019.9:g.51295037_51295040del , CM000681.1:g.51295037_51295040del	GRCh37
NC_000019.8:g.55986849_55986852del	NCBI36
NG_052652.1:g.6366_6369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.428_431del (ACP4) MANE Select	ENSP00000270593.1:p.Thr143SerfsTer9
ENST00000636757.1:c.-60+622_-60+625del (SMIM47)	ENSP00000489695.1:n.-60+622_-60+625del
ENST00000270593.1:c.428_431del (ACP4)	ENSP00000270593.1:p.Thr143SerfsTer9
NM_033068.2:c.428_431del (ACP4)	NP_149059.1:p.Thr143SerfsTer9
XR_936026.1:n.424+622_424+625del
XR_936026.2:n.434+622_434+625del
NM_033068.3:c.428_431del (ACP4) MANE Select	NP_149059.1:p.Thr143SerfsTer9