Canonical Allele Identifier: CA2586620262

Gene: ACP4 SMIM47

Linked Data

• gnomAD v4: 19-50791726-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791727_50791728del , CM000681.2:g.50791727_50791728del	GRCh38
NC_000019.9:g.51294984_51294985del , CM000681.1:g.51294984_51294985del	GRCh37
NC_000019.8:g.55986796_55986797del	NCBI36
NG_052652.1:g.6313_6314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.375_376del (ACP4) MANE Select	ENSP00000270593.1:p.Glu126GlyfsTer22
ENST00000636757.1:c.-60+677_-60+678del (SMIM47)	ENSP00000489695.1:n.-60+677_-60+678del
ENST00000270593.1:c.375_376del (ACP4)	ENSP00000270593.1:p.Glu126GlyfsTer22
NM_033068.2:c.375_376del (ACP4)	NP_149059.1:p.Glu126GlyfsTer22
XR_936026.1:n.424+677_424+678del
XR_936026.2:n.434+677_434+678del
NM_033068.3:c.375_376del (ACP4) MANE Select	NP_149059.1:p.Glu126GlyfsTer22