Canonical Allele Identifier: CA8776671

Gene: ACOX1

Linked Data

• ClinVar Variation Id: 2680353
• ClinVar RCV Id: RCV003474460 ; RCV003600465
• dbSNP Id: rs772934120
• ExAC: 17:73944539 CT / C
• gnomAD v3: 17-75948458-CT-C
• gnomAD v4: 17-75948458-CT-C
• MyVariant Identifiers: chr17:g.73944540del (hg19) ; chr17:g.75948459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75948459del , CM000679.2:g.75948459del	GRCh38
NC_000017.10:g.73944540del , CM000679.1:g.73944540del	GRCh37
NC_000017.9:g.71456135del	NCBI36
NG_008190.1:g.35905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301608.9:c.1729-2del	ENSP00000301608.4:n.1729-2del
ENST00000293217.10:c.1729-2del MANE Select	ENSP00000293217.4:n.1729-2del
ENST00000293217.9:c.1729-2del	ENSP00000293217.4:n.1729-2del
ENST00000301608.8:c.1729-2del	ENSP00000301608.4:n.1729-2del
ENST00000572047.5:c.1903-2del	ENSP00000459936.1:n.1903-2del
ENST00000573078.5:c.*1218-2del	ENSP00000458325.1:n.*1218-2del
ENST00000587927.5:c.144-2del
ENST00000588968.5:c.183-2del
NM_001185039.1:c.1615-2del	NP_001171968.1:n.1615-2del
NM_004035.6:c.1729-2del	NP_004026.2:n.1729-2del
NM_007292.5:c.1729-2del	NP_009223.2:n.1729-2del
XM_011524868.1:c.1525-2del	XP_011523170.1:n.1525-2del
XM_011524869.1:c.1321-2del	XP_011523171.1:n.1321-2del
XM_011524868.3:c.1525-2del	XP_011523170.1:n.1525-2del
XM_011524869.3:c.1321-2del	XP_011523171.1:n.1321-2del
NM_004035.7:c.1729-2del MANE Select	NP_004026.2:n.1729-2del
NM_001185039.2:c.1615-2del	NP_001171968.1:n.1615-2del
NM_007292.6:c.1729-2del	NP_009223.2:n.1729-2del