Canonical Allele Identifier: CA4566407

Gene: AOC1

Linked Data

• dbSNP Id: rs774729023
• ExAC: 7:150558326 CCCAGGAAG / C
• gnomAD v2: 7-150558326-CCCAGGAAG-C
• gnomAD v4: 7-150861238-CCCAGGAAG-C
• MyVariant Identifiers: chr7:g.150558327_150558334del (hg19) ; chr7:g.150861239_150861246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861241_150861248del , CM000669.2:g.150861241_150861248del	GRCh38
NC_000007.13:g.150558329_150558336del , CM000669.1:g.150558329_150558336del	GRCh37
NC_000007.12:g.150189262_150189269del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.*32_*39del MANE Select	ENSP00000354193.4:n.*32_*39del
ENST00000360937.8:c.*32_*39del	ENSP00000354193.4:n.*32_*39del
ENST00000416793.6:c.*32_*39del	ENSP00000411613.2:n.*32_*39del
ENST00000467291.5:c.*32_*39del	ENSP00000418328.1:n.*32_*39del
ENST00000493429.5:c.*32_*39del	ENSP00000418614.1:n.*32_*39del
ENST00000619575.1:c.*145_*152del	ENSP00000481717.1:n.*145_*152del
ENST00000622116.4:c.*280_*287del	ENSP00000481520.1:n.*280_*287del
NM_001091.3:c.*32_*39del	NP_001082.2:n.*32_*39del
NM_001272072.1:c.*32_*39del	NP_001259001.1:n.*32_*39del
XM_011516008.1:c.*32_*39del	XP_011514310.1:n.*32_*39del
XM_011516009.1:c.*32_*39del	XP_011514311.1:n.*32_*39del
XR_928169.1:n.295+15763_295+15770del
XR_928170.1:n.425+7370_425+7377del
XR_928171.1:n.297+15763_297+15770del
XM_017011944.1:c.*32_*39del	XP_016867433.1:n.*32_*39del
XM_017011945.1:c.*32_*39del	XP_016867434.1:n.*32_*39del
XM_017011946.2:c.*32_*39del	XP_016867435.1:n.*32_*39del
XM_017011947.1:c.*32_*39del	XP_016867436.1:n.*32_*39del
XR_928169.2:n.301+15763_301+15770del
XR_928171.2:n.301+15763_301+15770del
NM_001091.4:c.*32_*39del MANE Select	NP_001082.2:n.*32_*39del
NM_001272072.2:c.*32_*39del	NP_001259001.1:n.*32_*39del