Canonical Allele Identifier: CA220832
Community Standard Title: NM_000436.4(OXCT1):c.78+14dup
Gene: OXCT1 HGNC NCBI
OXCT1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.41870271dup , CM000667.2:g.41870271dup GRCh38
NC_000005.9:g.41870373dup , CM000667.1:g.41870373dup GRCh37
NC_000005.8:g.41906130dup NCBI36
NG_011823.1:g.5423dup

Transcript Alleles

HGVS Amino-acid Change
NM_000436.4:c.78+14dup (OXCT1) MANE Select NP_000427.1:n.78+14dup
ENST00000196371.10:c.78+14dup (OXCT1) MANE Select ENSP00000196371.5:n.78+14dup
NM_000436.3:c.78+14dup (OXCT1) NP_000427.1:n.78+14dup
NM_001364299.1:c.78+14dup (OXCT1) NP_001351228.1:n.78+14dup
NM_001364299.2:c.78+14dup (OXCT1) NP_001351228.1:n.78+14dup
NM_001364300.1:c.-524dup (OXCT1) NP_001351229.1:n.-524dup
NM_001364300.2:c.-524dup (OXCT1) NP_001351229.1:n.-524dup
NM_001364301.1:c.78+14dup (OXCT1) NP_001351230.1:n.78+14dup
NM_001364301.2:c.78+14dup (OXCT1) NP_001351230.1:n.78+14dup
NM_001364302.1:c.78+14dup (OXCT1) NP_001351231.1:n.78+14dup
NM_001364302.2:c.78+14dup (OXCT1) NP_001351231.1:n.78+14dup
NR_046635.1:n.164-20dup (OXCT1-AS1)
NR_157114.1:n.145+14dup (OXCT1)
NR_157114.2:n.145+14dup (OXCT1)
ENST00000196371.9:c.78+14dup (OXCT1) ENSP00000196371.5:n.78+14dup
XR_001742081.2:n.255+14dup (OXCT1)
XR_427658.2:n.254+14dup (OXCT1)
XR_427695.2:n.402+1199dup
XR_427695.3:n.2617+1199dup
XR_427696.2:n.363+1238dup
XR_925956.1:n.932+669dup
XR_925956.3:n.3147+669dup