Canonical Allele Identifier: CA2586620343

Gene: ACP4 SMIM47

Linked Data

• gnomAD v4: 19-50791780-CGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791782_50791784del , CM000681.2:g.50791782_50791784del	GRCh38
NC_000019.9:g.51295039_51295041del , CM000681.1:g.51295039_51295041del	GRCh37
NC_000019.8:g.55986851_55986853del	NCBI36
NG_052652.1:g.6368_6370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.430_432del (ACP4) MANE Select	ENSP00000270593.1:p.Val144del
ENST00000636757.1:c.-60+622_-60+624del (SMIM47)	ENSP00000489695.1:n.-60+622_-60+624del
ENST00000270593.1:c.430_432del (ACP4)	ENSP00000270593.1:p.Val144del
NM_033068.2:c.430_432del (ACP4)	NP_149059.1:p.Val144del
XR_936026.1:n.424+622_424+624del
XR_936026.2:n.434+622_434+624del
NM_033068.3:c.430_432del (ACP4) MANE Select	NP_149059.1:p.Val144del