Canonical Allele Identifier: CA2578301130

Gene: OXCT1

Linked Data

• gnomAD v4: 5-41862649-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41862653del , CM000667.2:g.41862653del	GRCh38
NC_000005.9:g.41862755del , CM000667.1:g.41862755del	GRCh37
NC_000005.8:g.41898512del	NCBI36
NG_011823.1:g.13040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196371.10:c.179del MANE Select	ENSP00000196371.5:p.Leu60TrpfsTer15
ENST00000196371.9:c.179del	ENSP00000196371.5:p.Leu60TrpfsTer15
NM_000436.3:c.179del	NP_000427.1:p.Leu60TrpfsTer15
XR_427658.2:n.355del
NM_001364299.1:c.179del	NP_001351228.1:p.Leu60TrpfsTer15
NM_001364300.1:c.200del	NP_001351229.1:p.Leu67TrpfsTer15
NM_001364301.1:c.179del	NP_001351230.1:p.Leu60TrpfsTer15
NM_001364302.1:c.179del	NP_001351231.1:p.Leu60TrpfsTer15
NR_157114.1:n.246del
XR_001742081.2:n.356del
NM_000436.4:c.179del MANE Select	NP_000427.1:p.Leu60TrpfsTer15
NM_001364299.2:c.179del	NP_001351228.1:p.Leu60TrpfsTer15
NM_001364300.2:c.200del	NP_001351229.1:p.Leu67TrpfsTer15
NM_001364301.2:c.179del	NP_001351230.1:p.Leu60TrpfsTer15
NM_001364302.2:c.179del	NP_001351231.1:p.Leu60TrpfsTer15
NR_157114.2:n.246del