Canonical Allele Identifier: CA2778422110

Gene: AOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857433_150857498del , CM000669.2:g.150857433_150857498del	GRCh38
NC_000007.13:g.150554521_150554586del , CM000669.1:g.150554521_150554586del	GRCh37
NC_000007.12:g.150185454_150185519del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.963_1028del MANE Select	ENSP00000354193.4:p.Trp322_Gly343del
ENST00000360937.8:c.963_1028del	ENSP00000354193.4:p.Trp322_Gly343del
ENST00000416793.6:c.963_1028del	ENSP00000411613.2:p.Trp322_Gly343del
ENST00000467291.5:c.963_1028del	ENSP00000418328.1:p.Trp322_Gly343del
ENST00000493429.5:c.963_1028del	ENSP00000418614.1:p.Trp322_Gly343del
ENST00000619575.1:c.961_1025del
ENST00000622116.4:c.-460_-395del	ENSP00000481520.1:n.-460_-395del
NM_001091.3:c.963_1028del	NP_001082.2:p.Trp322_Gly343del
NM_001272072.1:c.963_1028del	NP_001259001.1:p.Trp322_Gly343del
XM_011516008.1:c.963_1028del	XP_011514310.1:p.Trp322_Gly343del
XM_011516009.1:c.963_1028del	XP_011514311.1:p.Trp322_Gly343del
XR_928169.1:n.296-16047_296-15982del
XR_928170.1:n.425+11124_425+11189del
XR_928171.1:n.298-16047_298-15982del
XM_017011944.1:c.963_1028del	XP_016867433.1:p.Trp322_Gly343del
XM_017011945.1:c.963_1028del	XP_016867434.1:p.Trp322_Gly343del
XM_017011946.2:c.963_1028del	XP_016867435.1:p.Trp322_Gly343del
XM_017011947.1:c.963_1028del	XP_016867436.1:p.Trp322_Gly343del
XR_928169.2:n.302-16047_302-15982del
XR_928171.2:n.302-16047_302-15982del
NM_001091.4:c.963_1028del MANE Select	NP_001082.2:p.Trp322_Gly343del
NM_001272072.2:c.963_1028del	NP_001259001.1:p.Trp322_Gly343del