Canonical Allele Identifier: CA2673711472

Gene: OXCT1

Linked Data

• gnomAD v4: 5-41853342-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.41853343del , CM000667.2:g.41853343del	GRCh38
NC_000005.9:g.41853445del , CM000667.1:g.41853445del	GRCh37
NC_000005.8:g.41889202del	NCBI36
NG_011823.1:g.22347del

Transcript Alleles

HGVS	Amino-acid change
ENST00000196371.10:c.414+76del MANE Select	ENSP00000196371.5:n.414+76del
ENST00000196371.9:c.414+76del	ENSP00000196371.5:n.414+76del
NM_000436.3:c.414+76del	NP_000427.1:n.414+76del
XR_427658.2:n.590+76del
NM_001364299.1:c.414+76del	NP_001351228.1:n.414+76del
NM_001364300.1:c.435+76del	NP_001351229.1:n.435+76del
NM_001364301.1:c.414+76del	NP_001351230.1:n.414+76del
NM_001364302.1:c.414+76del	NP_001351231.1:n.414+76del
NR_157114.1:n.481+76del
XR_001742081.2:n.591+76del
NM_000436.4:c.414+76del MANE Select	NP_000427.1:n.414+76del
NM_001364299.2:c.414+76del	NP_001351228.1:n.414+76del
NM_001364300.2:c.435+76del	NP_001351229.1:n.435+76del
NM_001364301.2:c.414+76del	NP_001351230.1:n.414+76del
NM_001364302.2:c.414+76del	NP_001351231.1:n.414+76del
NR_157114.2:n.481+76del