Canonical Allele Identifier: CA2685599969

Gene: AOC1

Linked Data

• gnomAD v4: 7-150857430-CGGCTGGAGCTTTGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857431_150857446del , CM000669.2:g.150857431_150857446del	GRCh38
NC_000007.13:g.150554519_150554534del , CM000669.1:g.150554519_150554534del	GRCh37
NC_000007.12:g.150185452_150185467del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.961_976del MANE Select	ENSP00000354193.4:p.Gly321SerfsTer12
ENST00000360937.8:c.961_976del	ENSP00000354193.4:p.Gly321SerfsTer12
ENST00000416793.6:c.961_976del	ENSP00000411613.2:p.Gly321SerfsTer12
ENST00000467291.5:c.961_976del	ENSP00000418328.1:p.Gly321SerfsTer12
ENST00000483043.1:c.961_976del	ENSP00000417392.1:p.Gly321SerfsTer12
ENST00000493429.5:c.961_976del	ENSP00000418614.1:p.Gly321SerfsTer12
ENST00000619575.1:c.959_974del	ENSP00000481717.1:p.Arg320LeufsTer12
ENST00000622116.4:c.-462_-447del	ENSP00000481520.1:n.-462_-447del
NM_001091.3:c.961_976del	NP_001082.2:p.Gly321SerfsTer12
NM_001272072.1:c.961_976del	NP_001259001.1:p.Gly321SerfsTer12
XM_011516008.1:c.961_976del	XP_011514310.1:p.Gly321SerfsTer12
XM_011516009.1:c.961_976del	XP_011514311.1:p.Gly321SerfsTer12
XR_928169.1:n.296-16001_296-15986del
XR_928170.1:n.425+11170_425+11185del
XR_928171.1:n.298-16001_298-15986del
XM_017011944.1:c.961_976del	XP_016867433.1:p.Gly321SerfsTer12
XM_017011945.1:c.961_976del	XP_016867434.1:p.Gly321SerfsTer12
XM_017011946.2:c.961_976del	XP_016867435.1:p.Gly321SerfsTer12
XM_017011947.1:c.961_976del	XP_016867436.1:p.Gly321SerfsTer12
XR_928169.2:n.302-16001_302-15986del
XR_928171.2:n.302-16001_302-15986del
NM_001091.4:c.961_976del MANE Select	NP_001082.2:p.Gly321SerfsTer12
NM_001272072.2:c.961_976del	NP_001259001.1:p.Gly321SerfsTer12