Canonical Allele Identifier: CA2685597916

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861340-A-ACACACGAACAGACGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861346_150861361dup , CM000669.2:g.150861346_150861361dup	GRCh38
NC_000007.13:g.150558434_150558449dup , CM000669.1:g.150558434_150558449dup	GRCh37
NC_000007.12:g.150189367_150189382dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*137_*152dup MANE Select	ENSP00000354193.4:n.*137_*152dup
ENST00000360937.8:c.*137_*152dup	ENSP00000354193.4:n.*137_*152dup
ENST00000467291.5:c.*137_*152dup	ENSP00000418328.1:n.*137_*152dup
ENST00000493429.5:c.*137_*152dup	ENSP00000418614.1:n.*137_*152dup
XR_928169.1:n.295+15653_295+15668dup
XR_928170.1:n.425+7260_425+7275dup
XR_928171.1:n.297+15653_297+15668dup
XR_928169.2:n.301+15653_301+15668dup
XR_928171.2:n.301+15653_301+15668dup
NM_001091.4:c.*137_*152dup MANE Select	NP_001082.2:n.*137_*152dup
NM_001272072.2:c.*137_*152dup	NP_001259001.1:n.*137_*152dup