Canonical Allele Identifier: CA2565922256

Gene: OXCT1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862649del , CM000667.2:g.41862649del	GRCh38
NC_000005.9:g.41862751del , CM000667.1:g.41862751del	GRCh37
NC_000005.8:g.41898508del	NCBI36
NG_011823.1:g.13042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.181del MANE Select	ENSP00000196371.5:p.Val61LeufsTer14
ENST00000196371.9:c.181del	ENSP00000196371.5:p.Val61LeufsTer14
NM_000436.3:c.181del	NP_000427.1:p.Val61LeufsTer14
XR_427658.2:n.357del
NM_001364299.1:c.181del	NP_001351228.1:p.Val61LeufsTer14
NM_001364300.1:c.202del	NP_001351229.1:p.Val68LeufsTer14
NM_001364301.1:c.181del	NP_001351230.1:p.Val61LeufsTer14
NM_001364302.1:c.181del	NP_001351231.1:p.Val61LeufsTer14
NR_157114.1:n.248del
XR_001742081.2:n.358del
NM_000436.4:c.181del MANE Select	NP_000427.1:p.Val61LeufsTer14
NM_001364299.2:c.181del	NP_001351228.1:p.Val61LeufsTer14
NM_001364300.2:c.202del	NP_001351229.1:p.Val68LeufsTer14
NM_001364301.2:c.181del	NP_001351230.1:p.Val61LeufsTer14
NM_001364302.2:c.181del	NP_001351231.1:p.Val61LeufsTer14
NR_157114.2:n.248del