Canonical Allele Identifier: CA1075448241

Gene: OXCT1

Linked Data

• gnomAD v3: 5-41853332-ACCT-A
• gnomAD v4: 5-41853332-ACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41853334_41853336del , CM000667.2:g.41853334_41853336del	GRCh38
NC_000005.9:g.41853436_41853438del , CM000667.1:g.41853436_41853438del	GRCh37
NC_000005.8:g.41889193_41889195del	NCBI36
NG_011823.1:g.22355_22357del

Transcript Alleles

HGVS	Amino-acid change
ENST00000196371.10:c.414+84_414+86del MANE Select	ENSP00000196371.5:n.414+84_414+86del
ENST00000196371.9:c.414+84_414+86del	ENSP00000196371.5:n.414+84_414+86del
NM_000436.3:c.414+84_414+86del	NP_000427.1:n.414+84_414+86del
XR_427658.2:n.590+84_590+86del
NM_001364299.1:c.414+84_414+86del	NP_001351228.1:n.414+84_414+86del
NM_001364300.1:c.435+84_435+86del	NP_001351229.1:n.435+84_435+86del
NM_001364301.1:c.414+84_414+86del	NP_001351230.1:n.414+84_414+86del
NM_001364302.1:c.414+84_414+86del	NP_001351231.1:n.414+84_414+86del
NR_157114.1:n.481+84_481+86del
XR_001742081.2:n.591+84_591+86del
NM_000436.4:c.414+84_414+86del MANE Select	NP_000427.1:n.414+84_414+86del
NM_001364299.2:c.414+84_414+86del	NP_001351228.1:n.414+84_414+86del
NM_001364300.2:c.435+84_435+86del	NP_001351229.1:n.435+84_435+86del
NM_001364301.2:c.414+84_414+86del	NP_001351230.1:n.414+84_414+86del
NM_001364302.2:c.414+84_414+86del	NP_001351231.1:n.414+84_414+86del
NR_157114.2:n.481+84_481+86del