Canonical Allele Identifier: CA248838

Gene: ACP3

Linked Data

• ClinVar Variation Id: 218346
• ClinVar RCV Id: RCV000202571
• dbSNP Id: rs864309497
• MyVariant Identifiers: chr3:g.132068830_132068832del (hg19) ; chr3:g.132349986_132349988del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132349990_132349992del , CM000665.2:g.132349990_132349992del	GRCh38
NC_000003.11:g.132068834_132068836del , CM000665.1:g.132068834_132068836del	GRCh37
NC_000003.10:g.133551524_133551526del	NCBI36
NG_047032.1:g.37624_37626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351273.12:c.852_854del	ENSP00000323036.8:p.Ile284del
ENST00000336375.10:c.852_854del MANE Select	ENSP00000337471.5:p.Ile284del
ENST00000336375.9:c.852_854del	ENSP00000337471.5:p.Ile284del
ENST00000351273.11:c.852_854del	ENSP00000323036.8:p.Ile284del
ENST00000475741.5:c.753_755del	ENSP00000417744.1:p.Ile251del
ENST00000512463.1:n.500_502del
NM_001099.4:c.852_854del	NP_001090.2:p.Ile284del
NM_001134194.1:c.852_854del	NP_001127666.1:p.Ile284del
NM_001292037.1:c.753_755del	NP_001278966.1:p.Ile251del
XM_011512946.1:c.852_854del	XP_011511248.1:p.Ile284del
XM_011512947.1:c.753_755del	XP_011511249.1:p.Ile251del
XM_011512947.2:c.753_755del	XP_011511249.1:p.Ile251del
NM_001099.5:c.852_854del MANE Select	NP_001090.2:p.Ile284del
NM_001134194.2:c.852_854del	NP_001127666.1:p.Ile284del
NM_001292037.2:c.753_755del	NP_001278966.1:p.Ile251del