Canonical Allele Identifier: CA2778422048

Gene: AOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150856714_150856715insC , CM000669.2:g.150856714_150856715insC	GRCh38
NC_000007.13:g.150553802_150553803insC , CM000669.1:g.150553802_150553803insC	GRCh37
NC_000007.12:g.150184735_150184736insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.244_245insC MANE Select	ENSP00000354193.4:p.Val82AlafsTer7
ENST00000360937.8:c.244_245insC	ENSP00000354193.4:p.Val82AlafsTer7
ENST00000416793.6:c.244_245insC	ENSP00000411613.2:p.Val82AlafsTer7
ENST00000460213.1:c.244_245insC	ENSP00000418557.1:p.Val82AlafsTer7
ENST00000467291.5:c.244_245insC	ENSP00000418328.1:p.Val82AlafsTer7
ENST00000483043.1:c.244_245insC	ENSP00000417392.1:p.Val82AlafsTer7
ENST00000493429.5:c.244_245insC	ENSP00000418614.1:p.Val82AlafsTer7
ENST00000619575.1:c.244_245insC	ENSP00000481717.1:p.Val82AlafsTer7
ENST00000622116.4:c.-1179_-1178insC	ENSP00000481520.1:n.-1179_-1178insC
NM_001091.3:c.244_245insC	NP_001082.2:p.Val82AlafsTer7
NM_001272072.1:c.244_245insC	NP_001259001.1:p.Val82AlafsTer7
XM_011516008.1:c.244_245insC	XP_011514310.1:p.Val82AlafsTer7
XM_011516009.1:c.244_245insC	XP_011514311.1:p.Val82AlafsTer7
XR_928169.1:n.296-15270_296-15269insG
XR_928170.1:n.425+11901_425+11902insG
XR_928171.1:n.298-15270_298-15269insG
XM_017011944.1:c.244_245insC	XP_016867433.1:p.Val82AlafsTer7
XM_017011945.1:c.244_245insC	XP_016867434.1:p.Val82AlafsTer7
XM_017011946.2:c.244_245insC	XP_016867435.1:p.Val82AlafsTer7
XM_017011947.1:c.244_245insC	XP_016867436.1:p.Val82AlafsTer7
XR_928169.2:n.302-15270_302-15269insG
XR_928171.2:n.302-15270_302-15269insG
NM_001091.4:c.244_245insC MANE Select	NP_001082.2:p.Val82AlafsTer7
NM_001272072.2:c.244_245insC	NP_001259001.1:p.Val82AlafsTer7