Canonical Allele Identifier: CA4565935

Gene: AOC1

Linked Data

• dbSNP Id: rs776315831
• ExAC: 7:150554161 TATC / T
• gnomAD v2: 7-150554161-TATC-T
• gnomAD v3: 7-150857073-TATC-T
• gnomAD v4: 7-150857073-TATC-T
• MyVariant Identifiers: chr7:g.150554162_150554164del (hg19) ; chr7:g.150857074_150857076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857076_150857078del , CM000669.2:g.150857076_150857078del	GRCh38
NC_000007.13:g.150554164_150554166del , CM000669.1:g.150554164_150554166del	GRCh37
NC_000007.12:g.150185097_150185099del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.606_608del MANE Select	ENSP00000354193.4:p.Ile203del
ENST00000360937.8:c.606_608del	ENSP00000354193.4:p.Ile203del
ENST00000416793.6:c.606_608del	ENSP00000411613.2:p.Ile203del
ENST00000460213.1:c.606_608del	ENSP00000418557.1:p.Ile203del
ENST00000467291.5:c.606_608del	ENSP00000418328.1:p.Ile203del
ENST00000483043.1:c.606_608del	ENSP00000417392.1:p.Ile203del
ENST00000493429.5:c.606_608del	ENSP00000418614.1:p.Ile203del
ENST00000619575.1:c.606_608del	ENSP00000481717.1:p.Ile203del
ENST00000622116.4:c.-817_-815del	ENSP00000481520.1:n.-817_-815del
NM_001091.3:c.606_608del	NP_001082.2:p.Ile203del
NM_001272072.1:c.606_608del	NP_001259001.1:p.Ile203del
XM_011516008.1:c.606_608del	XP_011514310.1:p.Ile203del
XM_011516009.1:c.606_608del	XP_011514311.1:p.Ile203del
XR_928169.1:n.296-15631_296-15629del
XR_928170.1:n.425+11540_425+11542del
XR_928171.1:n.298-15631_298-15629del
XM_017011944.1:c.606_608del	XP_016867433.1:p.Ile203del
XM_017011945.1:c.606_608del	XP_016867434.1:p.Ile203del
XM_017011946.2:c.606_608del	XP_016867435.1:p.Ile203del
XM_017011947.1:c.606_608del	XP_016867436.1:p.Ile203del
XR_928169.2:n.302-15631_302-15629del
XR_928171.2:n.302-15631_302-15629del
NM_001091.4:c.606_608del MANE Select	NP_001082.2:p.Ile203del
NM_001272072.2:c.606_608del	NP_001259001.1:p.Ile203del