Canonical Allele Identifier: CA2685597891

Gene: AOC1

Linked Data

• gnomAD v4: 7-150861333-G-GTTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861334_150861335insTTCCT , CM000669.2:g.150861334_150861335insTTCCT	GRCh38
NC_000007.13:g.150558422_150558423insTTCCT , CM000669.1:g.150558422_150558423insTTCCT	GRCh37
NC_000007.12:g.150189355_150189356insTTCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360937.9:c.*125_*126insTTCCT MANE Select	ENSP00000354193.4:n.*125_*126insTTCCT
ENST00000360937.8:c.*125_*126insTTCCT	ENSP00000354193.4:n.*125_*126insTTCCT
ENST00000467291.5:c.*125_*126insTTCCT	ENSP00000418328.1:n.*125_*126insTTCCT
ENST00000493429.5:c.*125_*126insTTCCT	ENSP00000418614.1:n.*125_*126insTTCCT
XR_928169.1:n.295+15675_295+15676insGGAAA
XR_928170.1:n.425+7282_425+7283insGGAAA
XR_928171.1:n.297+15675_297+15676insGGAAA
XR_928169.2:n.301+15675_301+15676insGGAAA
XR_928171.2:n.301+15675_301+15676insGGAAA
NM_001091.4:c.*125_*126insTTCCT MANE Select	NP_001082.2:n.*125_*126insTTCCT
NM_001272072.2:c.*125_*126insTTCCT	NP_001259001.1:n.*125_*126insTTCCT