Canonical Allele Identifier: CA2586620233

Gene: ACP4 SMIM47

Linked Data

• gnomAD v4: 19-50791799-TAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791800_50791802del , CM000681.2:g.50791800_50791802del	GRCh38
NC_000019.9:g.51295057_51295059del , CM000681.1:g.51295057_51295059del	GRCh37
NC_000019.8:g.55986869_55986871del	NCBI36
NG_052652.1:g.6386_6388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.448_450del (ACP4) MANE Select	ENSP00000270593.1:p.Lys150del
ENST00000636757.1:c.-60+603_-60+605del (SMIM47)	ENSP00000489695.1:n.-60+603_-60+605del
ENST00000270593.1:c.448_450del (ACP4)	ENSP00000270593.1:p.Lys150del
NM_033068.2:c.448_450del (ACP4)	NP_149059.1:p.Lys150del
XR_936026.1:n.424+603_424+605del
XR_936026.2:n.434+603_434+605del
NM_033068.3:c.448_450del (ACP4) MANE Select	NP_149059.1:p.Lys150del