Canonical Allele Identifier: CA2741638742

Gene: ACP4 SMIM47

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791770_50791771dup , CM000681.2:g.50791770_50791771dup	GRCh38
NC_000019.9:g.51295027_51295028dup , CM000681.1:g.51295027_51295028dup	GRCh37
NC_000019.8:g.55986839_55986840dup	NCBI36
NG_052652.1:g.6356_6357dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.418_419dup (ACP4) MANE Select	ENSP00000270593.1:p.Val141ArgfsTer13
ENST00000636757.1:c.-60+635_-60+636dup (SMIM47)	ENSP00000489695.1:n.-60+635_-60+636dup
ENST00000270593.1:c.418_419dup (ACP4)	ENSP00000270593.1:p.Val141ArgfsTer13
NM_033068.2:c.418_419dup (ACP4)	NP_149059.1:p.Val141ArgfsTer13
XR_936026.1:n.424+635_424+636dup
XR_936026.2:n.434+635_434+636dup
NM_033068.3:c.418_419dup (ACP4) MANE Select	NP_149059.1:p.Val141ArgfsTer13