Canonical Allele Identifier: CA2586620238

Gene: ACP4 SMIM47

Linked Data

• gnomAD v4: 19-50791810-G-GCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50791810_50791811insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT , CM000681.2:g.50791810_50791811insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT	GRCh38
NC_000019.9:g.51295067_51295068insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT , CM000681.1:g.51295067_51295068insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT	GRCh37
NC_000019.8:g.55986879_55986880insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT	NCBI36
NG_052652.1:g.6396_6397insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270593.2:c.450+8_450+9insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT (ACP4) MANE Select	ENSP00000270593.1:n.450+8_450+9insCTGTCCTCTCTGAGACTCAGTTTTCCC...
ENST00000636757.1:c.-60+594_-60+595insAGCTGGGGAAAACTGAGTCTCAGAGAGGACAG (SMIM47)	ENSP00000489695.1:n.-60+594_-60+595insAGCTGGGGAAAACTGAGTCTCAG...
ENST00000270593.1:c.450+8_450+9insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT (ACP4)	ENSP00000270593.1:n.450+8_450+9insCTGTCCTCTCTGAGACTCAGTTTTCCC...
NM_033068.2:c.450+8_450+9insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT (ACP4)	NP_149059.1:n.450+8_450+9insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT
XR_936026.1:n.424+594_424+595insAGCTGGGGAAAACTGAGTCTCAGAGAGGACAG
XR_936026.2:n.434+594_434+595insAGCTGGGGAAAACTGAGTCTCAGAGAGGACAG
NM_033068.3:c.450+8_450+9insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT (ACP4) MANE Select	NP_149059.1:n.450+8_450+9insCTGTCCTCTCTGAGACTCAGTTTTCCCCAGCT