Canonical Allele Identifier: CA2685593189

Gene: AOC1

Linked Data

• gnomAD v4: 7-150858011-T-TGCACTACC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150858014_150858021dup , CM000669.2:g.150858014_150858021dup	GRCh38
NC_000007.13:g.150555102_150555109dup , CM000669.1:g.150555102_150555109dup	GRCh37
NC_000007.12:g.150186035_150186042dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.1544_1551dup MANE Select	ENSP00000354193.4:p.Val518ThrfsTer4
ENST00000360937.8:c.1544_1551dup	ENSP00000354193.4:p.Val518ThrfsTer4
ENST00000416793.6:c.1544_1551dup	ENSP00000411613.2:p.Val518ThrfsTer4
ENST00000467291.5:c.1544_1551dup	ENSP00000418328.1:p.Val518ThrfsTer4
ENST00000480582.1:n.82_89dup
ENST00000493429.5:c.1544_1551dup	ENSP00000418614.1:p.Val518ThrfsTer4
ENST00000619575.1:c.1538_1545dup	ENSP00000481717.1:p.Val516ThrfsTer4
ENST00000622116.4:c.122_129dup	ENSP00000481520.1:p.Val44ThrfsTer4
NM_001091.3:c.1544_1551dup	NP_001082.2:p.Val518ThrfsTer4
NM_001272072.1:c.1544_1551dup	NP_001259001.1:p.Val518ThrfsTer4
XM_011516008.1:c.1544_1551dup	XP_011514310.1:p.Val518ThrfsTer4
XM_011516009.1:c.1544_1551dup	XP_011514311.1:p.Val518ThrfsTer4
XR_928169.1:n.296-16574_296-16567dup
XR_928170.1:n.425+10597_425+10604dup
XR_928171.1:n.298-16574_298-16567dup
XM_017011944.1:c.1544_1551dup	XP_016867433.1:p.Val518ThrfsTer4
XM_017011945.1:c.1544_1551dup	XP_016867434.1:p.Val518ThrfsTer4
XM_017011946.2:c.1544_1551dup	XP_016867435.1:p.Val518ThrfsTer4
XM_017011947.1:c.1544_1551dup	XP_016867436.1:p.Val518ThrfsTer4
XR_928169.2:n.302-16574_302-16567dup
XR_928171.2:n.302-16574_302-16567dup
NM_001091.4:c.1544_1551dup MANE Select	NP_001082.2:p.Val518ThrfsTer4
NM_001272072.2:c.1544_1551dup	NP_001259001.1:p.Val518ThrfsTer4