Canonical Allele Identifier: CA1752396250

Gene: AOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857426_150857429delinsACGG , CM000669.2:g.150857426_150857429delinsACGG	GRCh38
NC_000007.13:g.150554514_150554517delinsACGG , CM000669.1:g.150554514_150554517delinsACGG	GRCh37
NC_000007.12:g.150185447_150185450delinsACGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.956_959delinsACGG MANE Select	ENSP00000354193.4:p.Tyr319=
ENST00000360937.8:c.956_959delinsACGG	ENSP00000354193.4:p.Tyr319=
ENST00000416793.6:c.956_959delinsACGG	ENSP00000411613.2:p.Tyr319=
ENST00000467291.5:c.956_959delinsACGG	ENSP00000418328.1:p.Tyr319=
ENST00000483043.1:c.956_959delinsACGG	ENSP00000417392.1:p.Tyr319=
ENST00000493429.5:c.956_959delinsACGG	ENSP00000418614.1:p.Tyr319=
ENST00000619575.1:c.954_957delinsACGG	ENSP00000481717.1:p.Leu318=
ENST00000622116.4:c.-467_-464delinsACGG	ENSP00000481520.1:n.-467_-464delinsACGG
NM_001091.3:c.956_959delinsACGG	NP_001082.2:p.Tyr319=
NM_001272072.1:c.956_959delinsACGG	NP_001259001.1:p.Tyr319=
XM_011516008.1:c.956_959delinsACGG	XP_011514310.1:p.Tyr319=
XM_011516009.1:c.956_959delinsACGG	XP_011514311.1:p.Tyr319=
XR_928169.1:n.296-15984_296-15981delinsCCGT
XR_928170.1:n.425+11187_425+11190delinsCCGT
XR_928171.1:n.298-15984_298-15981delinsCCGT
XM_017011944.1:c.956_959delinsACGG	XP_016867433.1:p.Tyr319=
XM_017011945.1:c.956_959delinsACGG	XP_016867434.1:p.Tyr319=
XM_017011946.2:c.956_959delinsACGG	XP_016867435.1:p.Tyr319=
XM_017011947.1:c.956_959delinsACGG	XP_016867436.1:p.Tyr319=
XR_928169.2:n.302-15984_302-15981delinsCCGT
XR_928171.2:n.302-15984_302-15981delinsCCGT
NM_001091.4:c.956_959delinsACGG MANE Select	NP_001082.2:p.Tyr319=
NM_001272072.2:c.956_959delinsACGG	NP_001259001.1:p.Tyr319=