Canonical Allele Identifier: CA2778422373

Gene: AOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861129_150861130del , CM000669.2:g.150861129_150861130del	GRCh38
NC_000007.13:g.150558217_150558218del , CM000669.1:g.150558217_150558218del	GRCh37
NC_000007.12:g.150189150_150189151del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360937.9:c.2176_2177del MANE Select	ENSP00000354193.4:p.Val726ProfsTer6
ENST00000360937.8:c.2176_2177del	ENSP00000354193.4:p.Val726ProfsTer6
ENST00000416793.6:c.2233_2234del	ENSP00000411613.2:p.Val745ProfsTer6
ENST00000467291.5:c.2176_2177del	ENSP00000418328.1:p.Val726ProfsTer6
ENST00000480582.1:n.853_854del
ENST00000493429.5:c.2176_2177del	ENSP00000418614.1:p.Val726ProfsTer6
ENST00000619575.1:c.*33_*34del	ENSP00000481717.1:n.*33_*34del
ENST00000622116.4:c.*168_*169del	ENSP00000481520.1:n.*168_*169del
NM_001091.3:c.2176_2177del	NP_001082.2:p.Val726ProfsTer6
NM_001272072.1:c.2233_2234del	NP_001259001.1:p.Val745ProfsTer6
XM_011516008.1:c.2233_2234del	XP_011514310.1:p.Val745ProfsTer6
XM_011516009.1:c.2176_2177del	XP_011514311.1:p.Val726ProfsTer6
XR_928169.1:n.295+15879_295+15880del
XR_928170.1:n.425+7486_425+7487del
XR_928171.1:n.297+15879_297+15880del
XM_017011944.1:c.2233_2234del	XP_016867433.1:p.Val745ProfsTer6
XM_017011945.1:c.2233_2234del	XP_016867434.1:p.Val745ProfsTer6
XM_017011946.2:c.2233_2234del	XP_016867435.1:p.Val745ProfsTer6
XM_017011947.1:c.2176_2177del	XP_016867436.1:p.Val726ProfsTer6
XR_928169.2:n.301+15879_301+15880del
XR_928171.2:n.301+15879_301+15880del
NM_001091.4:c.2176_2177del MANE Select	NP_001082.2:p.Val726ProfsTer6
NM_001272072.2:c.2233_2234del	NP_001259001.1:p.Val745ProfsTer6