Canonical Allele Identifier: CA1752395466

Gene: AOC1

Linked Data

• dbSNP Id: rs1799803032
• gnomAD v4: 7-150857108-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857112del , CM000669.2:g.150857112del	GRCh38
NC_000007.13:g.150554200del , CM000669.1:g.150554200del	GRCh37
NC_000007.12:g.150185133del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.642del MANE Select	ENSP00000354193.4:p.Thr215LeufsTer?
ENST00000360937.8:c.642del	ENSP00000354193.4:p.Thr215LeufsTer?
ENST00000416793.6:c.642del	ENSP00000411613.2:p.Thr215LeufsTer?
ENST00000460213.1:c.642del	ENSP00000418557.1:p.Thr215LeufsTer?
ENST00000467291.5:c.642del	ENSP00000418328.1:p.Thr215LeufsTer?
ENST00000483043.1:c.642del	ENSP00000417392.1:p.Thr215LeufsTer?
ENST00000493429.5:c.642del	ENSP00000418614.1:p.Thr215LeufsTer?
ENST00000619575.1:c.642del	ENSP00000481717.1:p.Thr215LeufsTer?
ENST00000622116.4:c.-781del	ENSP00000481520.1:n.-781del
NM_001091.3:c.642del	NP_001082.2:p.Thr215LeufsTer?
NM_001272072.1:c.642del	NP_001259001.1:p.Thr215LeufsTer?
XM_011516008.1:c.642del	XP_011514310.1:p.Thr215LeufsTer?
XM_011516009.1:c.642del	XP_011514311.1:p.Thr215LeufsTer?
XR_928169.1:n.296-15664del
XR_928170.1:n.425+11507del
XR_928171.1:n.298-15664del
XM_017011944.1:c.642del	XP_016867433.1:p.Thr215LeufsTer?
XM_017011945.1:c.642del	XP_016867434.1:p.Thr215LeufsTer?
XM_017011946.2:c.642del	XP_016867435.1:p.Thr215LeufsTer?
XM_017011947.1:c.642del	XP_016867436.1:p.Thr215LeufsTer?
XR_928169.2:n.302-15664del
XR_928171.2:n.302-15664del
NM_001091.4:c.642del MANE Select	NP_001082.2:p.Thr215LeufsTer?
NM_001272072.2:c.642del	NP_001259001.1:p.Thr215LeufsTer?