Canonical Allele Identifier: CA2275761431

Gene: ACOX1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75949042_75949044delinsTAG , CM000679.2:g.75949042_75949044delinsTAG	GRCh38
NC_000017.10:g.73945123_73945125delinsTAG , CM000679.1:g.73945123_73945125delinsTAG	GRCh37
NC_000017.9:g.71456718_71456720delinsTAG	NCBI36
NG_008190.1:g.35320_35322delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
NM_004035.7:c.1728+173_1728+175delinsCTA MANE Select	NP_004026.2:n.1728+173_1728+175delinsCTA
ENST00000293217.10:c.1728+173_1728+175delinsCTA MANE Select	ENSP00000293217.4:n.1728+173_1728+175delinsCTA
NM_001185039.1:c.1614+173_1614+175delinsCTA	NP_001171968.1:n.1614+173_1614+175delinsCTA
NM_001185039.2:c.1614+173_1614+175delinsCTA	NP_001171968.1:n.1614+173_1614+175delinsCTA
NM_004035.6:c.1728+173_1728+175delinsCTA	NP_004026.2:n.1728+173_1728+175delinsCTA
NM_007292.5:c.1728+173_1728+175delinsCTA	NP_009223.2:n.1728+173_1728+175delinsCTA
NM_007292.6:c.1728+173_1728+175delinsCTA	NP_009223.2:n.1728+173_1728+175delinsCTA
ENST00000293217.9:c.1728+173_1728+175delinsCTA	ENSP00000293217.4:n.1728+173_1728+175delinsCTA
ENST00000301608.8:c.1728+173_1728+175delinsCTA	ENSP00000301608.4:n.1728+173_1728+175delinsCTA
ENST00000301608.9:c.1728+173_1728+175delinsCTA	ENSP00000301608.4:n.1728+173_1728+175delinsCTA
ENST00000572047.5:c.1902+173_1902+175delinsCTA	ENSP00000459936.1:n.1902+173_1902+175delinsCTA
ENST00000573078.5:c.*1217+173_*1217+175delinsCTA	ENSP00000458325.1:n.*1217+173_*1217+175delinsCTA
ENST00000587927.5:c.143+173_143+175delinsCTA
ENST00000588968.5:c.182+173_182+175delinsCTA
XM_011524868.1:c.1524+173_1524+175delinsCTA	XP_011523170.1:n.1524+173_1524+175delinsCTA
XM_011524868.3:c.1524+173_1524+175delinsCTA	XP_011523170.1:n.1524+173_1524+175delinsCTA
XM_011524869.1:c.1320+173_1320+175delinsCTA	XP_011523171.1:n.1320+173_1320+175delinsCTA
XM_011524869.3:c.1320+173_1320+175delinsCTA	XP_011523171.1:n.1320+173_1320+175delinsCTA