Canonical Allele Identifier: CA1752388590
Gene: AOC1 HGNC NCBI

Linked Data

dbSNP Id: rs1799964139

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150861355_150861356insACAC , CM000669.2:g.150861355_150861356insACAC GRCh38
NC_000007.13:g.150558443_150558444insACAC , CM000669.1:g.150558443_150558444insACAC GRCh37
NC_000007.12:g.150189376_150189377insACAC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360937.9:c.*146_*147insACAC MANE Select ENSP00000354193.4:n.*146_*147insACAC
ENST00000360937.8:c.*146_*147insACAC ENSP00000354193.4:n.*146_*147insACAC
ENST00000467291.5:c.*146_*147insACAC ENSP00000418328.1:n.*146_*147insACAC
ENST00000493429.5:c.*146_*147insACAC ENSP00000418614.1:n.*146_*147insACAC
XR_928169.1:n.295+15653_295+15654insGTGT
XR_928170.1:n.425+7260_425+7261insGTGT
XR_928171.1:n.297+15653_297+15654insGTGT
XR_928169.2:n.301+15653_301+15654insGTGT
XR_928171.2:n.301+15653_301+15654insGTGT
NM_001091.4:c.*146_*147insACAC MANE Select NP_001082.2:n.*146_*147insACAC
NM_001272072.2:c.*146_*147insACAC NP_001259001.1:n.*146_*147insACAC