Canonical Allele Identifier: CA2778422046

Gene: AOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150856712_150856713insAGAAG , CM000669.2:g.150856712_150856713insAGAAG	GRCh38
NC_000007.13:g.150553800_150553801insAGAAG , CM000669.1:g.150553800_150553801insAGAAG	GRCh37
NC_000007.12:g.150184733_150184734insAGAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.242_243insAGAAG MANE Select	ENSP00000354193.4:p.His81GlnfsTer5
ENST00000360937.8:c.242_243insAGAAG	ENSP00000354193.4:p.His81GlnfsTer5
ENST00000416793.6:c.242_243insAGAAG	ENSP00000411613.2:p.His81GlnfsTer5
ENST00000460213.1:c.242_243insAGAAG	ENSP00000418557.1:p.His81GlnfsTer5
ENST00000467291.5:c.242_243insAGAAG	ENSP00000418328.1:p.His81GlnfsTer5
ENST00000483043.1:c.242_243insAGAAG	ENSP00000417392.1:p.His81GlnfsTer5
ENST00000493429.5:c.242_243insAGAAG	ENSP00000418614.1:p.His81GlnfsTer5
ENST00000619575.1:c.242_243insAGAAG	ENSP00000481717.1:p.His81GlnfsTer5
ENST00000622116.4:c.-1181_-1180insAGAAG	ENSP00000481520.1:n.-1181_-1180insAGAAG
NM_001091.3:c.242_243insAGAAG	NP_001082.2:p.His81GlnfsTer5
NM_001272072.1:c.242_243insAGAAG	NP_001259001.1:p.His81GlnfsTer5
XM_011516008.1:c.242_243insAGAAG	XP_011514310.1:p.His81GlnfsTer5
XM_011516009.1:c.242_243insAGAAG	XP_011514311.1:p.His81GlnfsTer5
XR_928169.1:n.296-15268_296-15267insCTTCT
XR_928170.1:n.425+11903_425+11904insCTTCT
XR_928171.1:n.298-15268_298-15267insCTTCT
XM_017011944.1:c.242_243insAGAAG	XP_016867433.1:p.His81GlnfsTer5
XM_017011945.1:c.242_243insAGAAG	XP_016867434.1:p.His81GlnfsTer5
XM_017011946.2:c.242_243insAGAAG	XP_016867435.1:p.His81GlnfsTer5
XM_017011947.1:c.242_243insAGAAG	XP_016867436.1:p.His81GlnfsTer5
XR_928169.2:n.302-15268_302-15267insCTTCT
XR_928171.2:n.302-15268_302-15267insCTTCT
NM_001091.4:c.242_243insAGAAG MANE Select	NP_001082.2:p.His81GlnfsTer5
NM_001272072.2:c.242_243insAGAAG	NP_001259001.1:p.His81GlnfsTer5