Canonical Allele Identifier: CA2685593777

Gene: AOC1

Linked Data

• gnomAD v4: 7-150858933-AGCCCCCAGGAGAACCCCTGGGGCCACAAGCGCACGTACCGCCTGCAGATCCACTCCATGGCCGACCAGGTGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150858943_150859015del , CM000669.2:g.150858943_150859015del	GRCh38
NC_000007.13:g.150556031_150556103del , CM000669.1:g.150556031_150556103del	GRCh37
NC_000007.12:g.150186964_150187036del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.1751_1823del MANE Select	ENSP00000354193.4:p.Glu584AlafsTer17
ENST00000360937.8:c.1751_1823del	ENSP00000354193.4:p.Glu584AlafsTer17
ENST00000416793.6:c.1751_1823del	ENSP00000411613.2:p.Glu584AlafsTer21
ENST00000467291.5:c.1751_1823del	ENSP00000418328.1:p.Glu584AlafsTer17
ENST00000480582.1:n.289_361del
ENST00000493429.5:c.1751_1823del	ENSP00000418614.1:p.Glu584AlafsTer17
ENST00000619575.1:c.1745_1817del	ENSP00000481717.1:p.Glu582AlafsTer17
ENST00000622116.4:c.329_401del	ENSP00000481520.1:p.Glu110AlafsTer17
NM_001091.3:c.1751_1823del	NP_001082.2:p.Glu584AlafsTer17
NM_001272072.1:c.1751_1823del	NP_001259001.1:p.Glu584AlafsTer21
XM_011516008.1:c.1751_1823del	XP_011514310.1:p.Glu584AlafsTer21
XM_011516009.1:c.1751_1823del	XP_011514311.1:p.Glu584AlafsTer17
XR_928169.1:n.296-17561_296-17489del
XR_928170.1:n.425+9610_425+9682del
XR_928171.1:n.298-17561_298-17489del
XM_017011944.1:c.1751_1823del	XP_016867433.1:p.Glu584AlafsTer21
XM_017011945.1:c.1751_1823del	XP_016867434.1:p.Glu584AlafsTer21
XM_017011946.2:c.1751_1823del	XP_016867435.1:p.Glu584AlafsTer21
XM_017011947.1:c.1751_1823del	XP_016867436.1:p.Glu584AlafsTer17
XR_928169.2:n.302-17561_302-17489del
XR_928171.2:n.302-17561_302-17489del
NM_001091.4:c.1751_1823del MANE Select	NP_001082.2:p.Glu584AlafsTer17
NM_001272072.2:c.1751_1823del	NP_001259001.1:p.Glu584AlafsTer21