Canonical Allele Identifier: CA2685597898

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861335-A-ACACACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861335_150861336insCACACAT , CM000669.2:g.150861335_150861336insCACACAT	GRCh38
NC_000007.13:g.150558423_150558424insCACACAT , CM000669.1:g.150558423_150558424insCACACAT	GRCh37
NC_000007.12:g.150189356_150189357insCACACAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*126_*127insCACACAT MANE Select	ENSP00000354193.4:n.*126_*127insCACACAT
ENST00000360937.8:c.*126_*127insCACACAT	ENSP00000354193.4:n.*126_*127insCACACAT
ENST00000467291.5:c.*126_*127insCACACAT	ENSP00000418328.1:n.*126_*127insCACACAT
ENST00000493429.5:c.*126_*127insCACACAT	ENSP00000418614.1:n.*126_*127insCACACAT
XR_928169.1:n.295+15673_295+15674insATGTGTG
XR_928170.1:n.425+7280_425+7281insATGTGTG
XR_928171.1:n.297+15673_297+15674insATGTGTG
XR_928169.2:n.301+15673_301+15674insATGTGTG
XR_928171.2:n.301+15673_301+15674insATGTGTG
NM_001091.4:c.*126_*127insCACACAT MANE Select	NP_001082.2:n.*126_*127insCACACAT
NM_001272072.2:c.*126_*127insCACACAT	NP_001259001.1:n.*126_*127insCACACAT