Canonical Allele Identifier: CA2341080482

Gene: ACP4 SMIM47

Linked Data

• dbSNP Id: rs2089510677

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791785_50791786insTGCATAAGGTGCTGCATA , CM000681.2:g.50791785_50791786insTGCATAAGGTGCTGCATA	GRCh38
NC_000019.9:g.51295042_51295043insTGCATAAGGTGCTGCATA , CM000681.1:g.51295042_51295043insTGCATAAGGTGCTGCATA	GRCh37
NC_000019.8:g.55986854_55986855insTGCATAAGGTGCTGCATA	NCBI36
NG_052652.1:g.6371_6372insTGCATAAGGTGCTGCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.433_434insTGCATAAGGTGCTGCATA (ACP4) MANE Select	ENSP00000270593.1:p.Pro145delinsLeuHisLysValLeuHisThr
ENST00000636757.1:c.-60+619_-60+620insTATGCAGCACCTTATGCA (SMIM47)	ENSP00000489695.1:n.-60+619_-60+620insTATGCAGCACCTTATGCA
ENST00000270593.1:c.433_434insTGCATAAGGTGCTGCATA (ACP4)	ENSP00000270593.1:p.Pro145delinsLeuHisLysValLeuHisThr
NM_033068.2:c.433_434insTGCATAAGGTGCTGCATA (ACP4)	NP_149059.1:p.Pro145delinsLeuHisLysValLeuHisThr
XR_936026.1:n.424+619_424+620insTATGCAGCACCTTATGCA
XR_936026.2:n.434+619_434+620insTATGCAGCACCTTATGCA
NM_033068.3:c.433_434insTGCATAAGGTGCTGCATA (ACP4) MANE Select	NP_149059.1:p.Pro145delinsLeuHisLysValLeuHisThr