Canonical Allele Identifier: CA2586620231

Gene: ACP4 SMIM47

Linked Data

• gnomAD v4: 19-50791661-C-CATCCGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791662_50791668dup , CM000681.2:g.50791662_50791668dup	GRCh38
NC_000019.9:g.51294919_51294925dup , CM000681.1:g.51294919_51294925dup	GRCh37
NC_000019.8:g.55986731_55986737dup	NCBI36
NG_052652.1:g.6248_6254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.310_316dup (ACP4) MANE Select	ENSP00000270593.1:p.Ser106AsnfsTer7
ENST00000636757.1:c.-60+737_-60+743dup (SMIM47)	ENSP00000489695.1:n.-60+737_-60+743dup
ENST00000270593.1:c.310_316dup (ACP4)	ENSP00000270593.1:p.Ser106AsnfsTer7
NM_033068.2:c.310_316dup (ACP4)	NP_149059.1:p.Ser106AsnfsTer7
XR_936026.1:n.424+737_424+743dup
XR_936026.2:n.434+737_434+743dup
NM_033068.3:c.310_316dup (ACP4) MANE Select	NP_149059.1:p.Ser106AsnfsTer7