Canonical Allele Identifier: CA4565932

Gene: AOC1

Linked Data

• dbSNP Id: rs770663434
• ExAC: 7:150554151 GC / G
• gnomAD v2: 7-150554151-GC-G
• gnomAD v4: 7-150857063-GC-G
• MyVariant Identifiers: chr7:g.150554152del (hg19) ; chr7:g.150857064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857064del , CM000669.2:g.150857064del	GRCh38
NC_000007.13:g.150554152del , CM000669.1:g.150554152del	GRCh37
NC_000007.12:g.150185085del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.594del MANE Select	ENSP00000354193.4:p.Ser199ValfsTer9
ENST00000360937.8:c.594del	ENSP00000354193.4:p.Ser199ValfsTer9
ENST00000416793.6:c.594del	ENSP00000411613.2:p.Ser199ValfsTer9
ENST00000460213.1:c.594del	ENSP00000418557.1:p.Ser199ValfsTer9
ENST00000467291.5:c.594del	ENSP00000418328.1:p.Ser199ValfsTer9
ENST00000483043.1:c.594del	ENSP00000417392.1:p.Ser199ValfsTer9
ENST00000493429.5:c.594del	ENSP00000418614.1:p.Ser199ValfsTer9
ENST00000619575.1:c.594del	ENSP00000481717.1:p.Ser199ValfsTer9
ENST00000622116.4:c.-829del	ENSP00000481520.1:n.-829del
NM_001091.3:c.594del	NP_001082.2:p.Ser199ValfsTer9
NM_001272072.1:c.594del	NP_001259001.1:p.Ser199ValfsTer9
XM_011516008.1:c.594del	XP_011514310.1:p.Ser199ValfsTer9
XM_011516009.1:c.594del	XP_011514311.1:p.Ser199ValfsTer9
XR_928169.1:n.296-15619del
XR_928170.1:n.425+11552del
XR_928171.1:n.298-15619del
XM_017011944.1:c.594del	XP_016867433.1:p.Ser199ValfsTer9
XM_017011945.1:c.594del	XP_016867434.1:p.Ser199ValfsTer9
XM_017011946.2:c.594del	XP_016867435.1:p.Ser199ValfsTer9
XM_017011947.1:c.594del	XP_016867436.1:p.Ser199ValfsTer9
XR_928169.2:n.302-15619del
XR_928171.2:n.302-15619del
NM_001091.4:c.594del MANE Select	NP_001082.2:p.Ser199ValfsTer9
NM_001272072.2:c.594del	NP_001259001.1:p.Ser199ValfsTer9