Canonical Allele Identifier: CA4566032

Gene: AOC1

Linked Data

• dbSNP Id: rs750516753
• ExAC: 7:150554499 GC / G
• gnomAD v2: 7-150554499-GC-G
• gnomAD v3: 7-150857411-GC-G
• gnomAD v4: 7-150857411-GC-G
• MyVariant Identifiers: chr7:g.150554500del (hg19) ; chr7:g.150857412del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857412del , CM000669.2:g.150857412del	GRCh38
NC_000007.13:g.150554500del , CM000669.1:g.150554500del	GRCh37
NC_000007.12:g.150185433del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.942del MANE Select	ENSP00000354193.4:p.Asn315ThrfsTer23
ENST00000360937.8:c.942del	ENSP00000354193.4:p.Asn315ThrfsTer23
ENST00000416793.6:c.942del	ENSP00000411613.2:p.Asn315ThrfsTer23
ENST00000467291.5:c.942del	ENSP00000418328.1:p.Asn315ThrfsTer23
ENST00000483043.1:c.942del	ENSP00000417392.1:p.Asn315ThrfsTer23
ENST00000493429.5:c.942del	ENSP00000418614.1:p.Asn315ThrfsTer23
ENST00000619575.1:c.940del	ENSP00000481717.1:p.Gln314AsnfsTer23
ENST00000622116.4:c.-481del	ENSP00000481520.1:n.-481del
NM_001091.3:c.942del	NP_001082.2:p.Asn315ThrfsTer23
NM_001272072.1:c.942del	NP_001259001.1:p.Asn315ThrfsTer23
XM_011516008.1:c.942del	XP_011514310.1:p.Asn315ThrfsTer23
XM_011516009.1:c.942del	XP_011514311.1:p.Asn315ThrfsTer23
XR_928169.1:n.296-15967del
XR_928170.1:n.425+11204del
XR_928171.1:n.298-15967del
XM_017011944.1:c.942del	XP_016867433.1:p.Asn315ThrfsTer23
XM_017011945.1:c.942del	XP_016867434.1:p.Asn315ThrfsTer23
XM_017011946.2:c.942del	XP_016867435.1:p.Asn315ThrfsTer23
XM_017011947.1:c.942del	XP_016867436.1:p.Asn315ThrfsTer23
XR_928169.2:n.302-15967del
XR_928171.2:n.302-15967del
NM_001091.4:c.942del MANE Select	NP_001082.2:p.Asn315ThrfsTer23
NM_001272072.2:c.942del	NP_001259001.1:p.Asn315ThrfsTer23