Canonical Allele Identifier: CA835204019

Gene: AOC1

Linked Data

• dbSNP Id: rs1427855958
• gnomAD v4: 7-150857509-GC-G
• MyVariant Identifiers: chr7:g.150554598del (hg19) ; chr7:g.150857510del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857511del , CM000669.2:g.150857511del	GRCh38
NC_000007.13:g.150554599del , CM000669.1:g.150554599del	GRCh37
NC_000007.12:g.150185532del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.1041del MANE Select	ENSP00000354193.4:p.Tyr348MetfsTer?
ENST00000360937.8:c.1041del	ENSP00000354193.4:p.Tyr348MetfsTer?
ENST00000416793.6:c.1041del	ENSP00000411613.2:p.Tyr348MetfsTer?
ENST00000467291.5:c.1041del	ENSP00000418328.1:p.Tyr348MetfsTer?
ENST00000493429.5:c.1041del	ENSP00000418614.1:p.Tyr348MetfsTer?
ENST00000619575.1:c.1038del	ENSP00000481717.1:p.Tyr347MetfsTer?
ENST00000622116.4:c.-382del	ENSP00000481520.1:n.-382del
NM_001091.3:c.1041del	NP_001082.2:p.Tyr348MetfsTer?
NM_001272072.1:c.1041del	NP_001259001.1:p.Tyr348MetfsTer?
XM_011516008.1:c.1041del	XP_011514310.1:p.Tyr348MetfsTer?
XM_011516009.1:c.1041del	XP_011514311.1:p.Tyr348MetfsTer?
XR_928169.1:n.296-16065del
XR_928170.1:n.425+11106del
XR_928171.1:n.298-16065del
XM_017011944.1:c.1041del	XP_016867433.1:p.Tyr348MetfsTer?
XM_017011945.1:c.1041del	XP_016867434.1:p.Tyr348MetfsTer?
XM_017011946.2:c.1041del	XP_016867435.1:p.Tyr348MetfsTer?
XM_017011947.1:c.1041del	XP_016867436.1:p.Tyr348MetfsTer?
XR_928169.2:n.302-16065del
XR_928171.2:n.302-16065del
NM_001091.4:c.1041del MANE Select	NP_001082.2:p.Tyr348MetfsTer?
NM_001272072.2:c.1041del	NP_001259001.1:p.Tyr348MetfsTer?