Canonical Allele Identifier: CA1752388637

Gene: AOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861372_150861376delinsGCACA , CM000669.2:g.150861372_150861376delinsGCACA	GRCh38
NC_000007.13:g.150558460_150558464delinsGCACA , CM000669.1:g.150558460_150558464delinsGCACA	GRCh37
NC_000007.12:g.150189393_150189397delinsGCACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*163_*167delinsGCACA MANE Select	ENSP00000354193.4:n.*163_*167delinsGCACA
ENST00000360937.8:c.*163_*167delinsGCACA	ENSP00000354193.4:n.*163_*167delinsGCACA
ENST00000467291.5:c.*163_*167delinsGCACA	ENSP00000418328.1:n.*163_*167delinsGCACA
ENST00000493429.5:c.*163_*167delinsGCACA	ENSP00000418614.1:n.*163_*167delinsGCACA
XR_928169.1:n.295+15633_295+15637delinsTGTGC
XR_928170.1:n.425+7240_425+7244delinsTGTGC
XR_928171.1:n.297+15633_297+15637delinsTGTGC
XR_928169.2:n.301+15633_301+15637delinsTGTGC
XR_928171.2:n.301+15633_301+15637delinsTGTGC
NM_001091.4:c.*163_*167delinsGCACA MANE Select	NP_001082.2:n.*163_*167delinsGCACA
NM_001272072.2:c.*163_*167delinsGCACA	NP_001259001.1:n.*163_*167delinsGCACA