Canonical Allele Identifier: CA2586620323

Gene: ACP4 SMIM47

Linked Data

• gnomAD v4: 19-50791909-G-GCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791944_50791945insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC , CM000681.2:g.50791944_50791945insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC	GRCh38
NC_000019.9:g.51295201_51295202insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC , CM000681.1:g.51295201_51295202insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC	GRCh37
NC_000019.8:g.55987013_55987014insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC	NCBI36
NG_052652.1:g.6530_6531insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.451-129_451-128insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC (ACP4) MANE Select	ENSP00000270593.1:n.451-129_451-128insCCTGGTCTGTCCAGACCAGGGTG...
ENST00000636757.1:c.-60+495_-60+496insGGTGGGCCGGGGCTCACCCTGGTCTGGACAGACCAG (SMIM47)	ENSP00000489695.1:n.-60+495_-60+496insGGTGGGCCGGGGCTCACCCTGGT...
ENST00000270593.1:c.451-129_451-128insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC (ACP4)	ENSP00000270593.1:n.451-129_451-128insCCTGGTCTGTCCAGACCAGGGTG...
NM_033068.2:c.451-129_451-128insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC (ACP4)	NP_149059.1:n.451-129_451-128insCCTGGTCTGTCCAGACCAGGGTGAGCCCC...
XR_936026.1:n.424+495_424+496insGGTGGGCCGGGGCTCACCCTGGTCTGGACAGACCAG
XR_936026.2:n.434+495_434+496insGGTGGGCCGGGGCTCACCCTGGTCTGGACAGACCAG
NM_033068.3:c.451-129_451-128insCCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCAC (ACP4) MANE Select	NP_149059.1:n.451-129_451-128insCCTGGTCTGTCCAGACCAGGGTGAGCCCC...