Canonical Allele Identifier: CA2586620335

Gene: ACP4 SMIM47

Linked Data

• gnomAD v4: 19-50791919-C-CCAGACCAGCGTGGGCTGGGGCTCACCCTGGTCTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791927_50791928insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG , CM000681.2:g.50791927_50791928insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG	GRCh38
NC_000019.9:g.51295184_51295185insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG , CM000681.1:g.51295184_51295185insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG	GRCh37
NC_000019.8:g.55986996_55986997insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG	NCBI36
NG_052652.1:g.6513_6514insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.450+125_450+126insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG (ACP4) MANE Select	ENSP00000270593.1:n.450+125_450+126insCGTGGGCTGGGGCTCACCCTGGT...
ENST00000636757.1:c.-60+485_-60+486insTCCAGACCAGGGTGAGCCCCAGCCCACGCTGGTCTG (SMIM47)	ENSP00000489695.1:n.-60+485_-60+486insTCCAGACCAGGGTGAGCCCCAGC...
ENST00000270593.1:c.450+125_450+126insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG (ACP4)	ENSP00000270593.1:n.450+125_450+126insCGTGGGCTGGGGCTCACCCTGGT...
NM_033068.2:c.450+125_450+126insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG (ACP4)	NP_149059.1:n.450+125_450+126insCGTGGGCTGGGGCTCACCCTGGTCTGGAC...
XR_936026.1:n.424+485_424+486insTCCAGACCAGGGTGAGCCCCAGCCCACGCTGGTCTG
XR_936026.2:n.434+485_434+486insTCCAGACCAGGGTGAGCCCCAGCCCACGCTGGTCTG
NM_033068.3:c.450+125_450+126insCGTGGGCTGGGGCTCACCCTGGTCTGGACAGACCAG (ACP4) MANE Select	NP_149059.1:n.450+125_450+126insCGTGGGCTGGGGCTCACCCTGGTCTGGAC...