Canonical Allele Identifier: CA2341080470

Gene: ACP4 SMIM47

Linked Data

• dbSNP Id: rs2089510232
• gnomAD v4: 19-50791774-TGCACAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791776_50791781del , CM000681.2:g.50791776_50791781del	GRCh38
NC_000019.9:g.51295033_51295038del , CM000681.1:g.51295033_51295038del	GRCh37
NC_000019.8:g.55986845_55986850del	NCBI36
NG_052652.1:g.6362_6367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.424_429del (ACP4) MANE Select	ENSP00000270593.1:p.His142_Thr143del
ENST00000636757.1:c.-60+625_-60+630del (SMIM47)	ENSP00000489695.1:n.-60+625_-60+630del
ENST00000270593.1:c.424_429del (ACP4)	ENSP00000270593.1:p.His142_Thr143del
NM_033068.2:c.424_429del (ACP4)	NP_149059.1:p.His142_Thr143del
XR_936026.1:n.424+625_424+630del
XR_936026.2:n.434+625_434+630del
NM_033068.3:c.424_429del (ACP4) MANE Select	NP_149059.1:p.His142_Thr143del