Canonical Allele Identifier: CA2578376625

Gene: SLC25A46

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761289del , CM000667.2:g.110761289del	GRCh38
NC_000005.9:g.110096989del , CM000667.1:g.110096989del	GRCh37
NC_000005.8:g.110124888del	NCBI36
NG_051334.1:g.28154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.764del MANE Select	ENSP00000348211.3:p.Ser255ThrfsTer10
ENST00000355943.7:c.764del	ENSP00000348211.3:p.Ser255ThrfsTer10
ENST00000447245.6:c.679-158del	ENSP00000399717.2:n.679-158del
ENST00000502462.6:n.1080del
ENST00000504098.1:c.326del	ENSP00000425708.1:p.Ser109ThrfsTer10
ENST00000509432.1:c.125del	ENSP00000426604.1:p.Ser42ThrfsTer10
ENST00000513706.2:n.2364del
ENST00000513807.5:c.278del	ENSP00000421134.1:p.Ser93ThrfsTer10
NM_001303249.1:c.679-158del	NP_001290178.1:n.679-158del
NM_001303250.1:c.491del	NP_001290179.1:p.Ser164ThrfsTer10
NM_138773.2:c.764del	NP_620128.1:p.Ser255ThrfsTer10
NM_001303249.2:c.679-158del	NP_001290178.1:n.679-158del
NM_001303250.2:c.491del	NP_001290179.1:p.Ser164ThrfsTer10
NM_138773.3:c.764del	NP_620128.1:p.Ser255ThrfsTer10
NR_138151.1:n.1038del
NM_138773.4:c.764del MANE Select	NP_620128.1:p.Ser255ThrfsTer10
NM_001303249.3:c.679-158del	NP_001290178.1:n.679-158del
NM_001303250.3:c.491del	NP_001290179.1:p.Ser164ThrfsTer10
NR_138151.2:n.1003del