Canonical Allele Identifier: CA2685599726

Gene: AOC1

Linked Data

• gnomAD v4: 7-150857142-G-GTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857142_150857143insTGT , CM000669.2:g.150857142_150857143insTGT	GRCh38
NC_000007.13:g.150554230_150554231insTGT , CM000669.1:g.150554230_150554231insTGT	GRCh37
NC_000007.12:g.150185163_150185164insTGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.672_673insTGT MANE Select	ENSP00000354193.4:p.Gly224_Ser225insCys
ENST00000360937.8:c.672_673insTGT	ENSP00000354193.4:p.Gly224_Ser225insCys
ENST00000416793.6:c.672_673insTGT	ENSP00000411613.2:p.Gly224_Ser225insCys
ENST00000460213.1:c.672_673insTGT	ENSP00000418557.1:p.Gly224_Ser225insCys
ENST00000467291.5:c.672_673insTGT	ENSP00000418328.1:p.Gly224_Ser225insCys
ENST00000483043.1:c.672_673insTGT	ENSP00000417392.1:p.Gly224_Ser225insCys
ENST00000493429.5:c.672_673insTGT	ENSP00000418614.1:p.Gly224_Ser225insCys
ENST00000619575.1:c.672_673insTGT	ENSP00000481717.1:p.Gly224_Ser225insCys
ENST00000622116.4:c.-751_-750insTGT	ENSP00000481520.1:n.-751_-750insTGT
NM_001091.3:c.672_673insTGT	NP_001082.2:p.Gly224_Ser225insCys
NM_001272072.1:c.672_673insTGT	NP_001259001.1:p.Gly224_Ser225insCys
XM_011516008.1:c.672_673insTGT	XP_011514310.1:p.Gly224_Ser225insCys
XM_011516009.1:c.672_673insTGT	XP_011514311.1:p.Gly224_Ser225insCys
XR_928169.1:n.296-15698_296-15697insACA
XR_928170.1:n.425+11473_425+11474insACA
XR_928171.1:n.298-15698_298-15697insACA
XM_017011944.1:c.672_673insTGT	XP_016867433.1:p.Gly224_Ser225insCys
XM_017011945.1:c.672_673insTGT	XP_016867434.1:p.Gly224_Ser225insCys
XM_017011946.2:c.672_673insTGT	XP_016867435.1:p.Gly224_Ser225insCys
XM_017011947.1:c.672_673insTGT	XP_016867436.1:p.Gly224_Ser225insCys
XR_928169.2:n.302-15698_302-15697insACA
XR_928171.2:n.302-15698_302-15697insACA
NM_001091.4:c.672_673insTGT MANE Select	NP_001082.2:p.Gly224_Ser225insCys
NM_001272072.2:c.672_673insTGT	NP_001259001.1:p.Gly224_Ser225insCys