Canonical Allele Identifier: CA2341080465

Gene: ACP4 SMIM47

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791770_50791779delinsCCGGTGCACA , CM000681.2:g.50791770_50791779delinsCCGGTGCACA	GRCh38
NC_000019.9:g.51295027_51295036delinsCCGGTGCACA , CM000681.1:g.51295027_51295036delinsCCGGTGCACA	GRCh37
NC_000019.8:g.55986839_55986848delinsCCGGTGCACA	NCBI36
NG_052652.1:g.6356_6365delinsCCGGTGCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.418_427delinsCCGGTGCACA (ACP4) MANE Select	ENSP00000270593.1:p.Pro140=
ENST00000636757.1:c.-60+626_-60+635delinsTGTGCACCGG (SMIM47)	ENSP00000489695.1:n.-60+626_-60+635delinsTGTGCACCGG
ENST00000270593.1:c.418_427delinsCCGGTGCACA (ACP4)	ENSP00000270593.1:p.Pro140=
NM_033068.2:c.418_427delinsCCGGTGCACA (ACP4)	NP_149059.1:p.Pro140=
XR_936026.1:n.424+626_424+635delinsTGTGCACCGG
XR_936026.2:n.434+626_434+635delinsTGTGCACCGG
NM_033068.3:c.418_427delinsCCGGTGCACA (ACP4) MANE Select	NP_149059.1:p.Pro140=