Canonical Allele Identifier: CA2740901048

Gene: AOC1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150857387_150857389del , CM000669.2:g.150857387_150857389del	GRCh38
NC_000007.13:g.150554475_150554477del , CM000669.1:g.150554475_150554477del	GRCh37
NC_000007.12:g.150185408_150185410del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.917_919del MANE Select	ENSP00000354193.4:p.His306_Gly307delinsArg
ENST00000360937.8:c.917_919del	ENSP00000354193.4:p.His306_Gly307delinsArg
ENST00000416793.6:c.917_919del	ENSP00000411613.2:p.His306_Gly307delinsArg
ENST00000467291.5:c.917_919del	ENSP00000418328.1:p.His306_Gly307delinsArg
ENST00000483043.1:c.917_919del	ENSP00000417392.1:p.His306_Gly307delinsArg
ENST00000493429.5:c.917_919del	ENSP00000418614.1:p.His306_Gly307delinsArg
ENST00000619575.1:c.915_917del	ENSP00000481717.1:p.Arg306del
ENST00000622116.4:c.-506_-504del	ENSP00000481520.1:n.-506_-504del
NM_001091.3:c.917_919del	NP_001082.2:p.His306_Gly307delinsArg
NM_001272072.1:c.917_919del	NP_001259001.1:p.His306_Gly307delinsArg
XM_011516008.1:c.917_919del	XP_011514310.1:p.His306_Gly307delinsArg
XM_011516009.1:c.917_919del	XP_011514311.1:p.His306_Gly307delinsArg
XR_928169.1:n.296-15944_296-15942del
XR_928170.1:n.425+11227_425+11229del
XR_928171.1:n.298-15944_298-15942del
XM_017011944.1:c.917_919del	XP_016867433.1:p.His306_Gly307delinsArg
XM_017011945.1:c.917_919del	XP_016867434.1:p.His306_Gly307delinsArg
XM_017011946.2:c.917_919del	XP_016867435.1:p.His306_Gly307delinsArg
XM_017011947.1:c.917_919del	XP_016867436.1:p.His306_Gly307delinsArg
XR_928169.2:n.302-15944_302-15942del
XR_928171.2:n.302-15944_302-15942del
NM_001091.4:c.917_919del MANE Select	NP_001082.2:p.His306_Gly307delinsArg
NM_001272072.2:c.917_919del	NP_001259001.1:p.His306_Gly307delinsArg