Canonical Allele Identifier: CA633707967

Gene: ACP4 SMIM47

Linked Data

• dbSNP Id: rs1230778224
• gnomAD v2: 19-51294879-A-AC
• gnomAD v3: 19-50791622-A-AC
• gnomAD v4: 19-50791622-A-AC
• MyVariant Identifiers: chr19:g.51294880_51294881insC (hg19) ; chr19:g.51294879_51294880insC (hg19) ; chr19:g.50791622_50791623insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791628dup , CM000681.2:g.50791628dup	GRCh38
NC_000019.9:g.51294885dup , CM000681.1:g.51294885dup	GRCh37
NC_000019.8:g.55986697dup	NCBI36
NG_052652.1:g.6214dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.304-28dup (ACP4) MANE Select	ENSP00000270593.1:n.304-28dup
ENST00000636757.1:c.-60+782dup (SMIM47)	ENSP00000489695.1:n.-60+782dup
ENST00000270593.1:c.304-28dup (ACP4)	ENSP00000270593.1:n.304-28dup
NM_033068.2:c.304-28dup (ACP4)	NP_149059.1:n.304-28dup
XR_936026.1:n.424+782dup
XR_936026.2:n.434+782dup
NM_033068.3:c.304-28dup (ACP4) MANE Select	NP_149059.1:n.304-28dup